Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573148_38573149insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC , CM000681.2:g.38573148_38573149insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	GRCh38
NC_000019.9:g.39063788_39063789insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC , CM000681.1:g.39063788_39063789insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	GRCh37
NC_000019.8:g.43755628_43755629insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	NCBI36
NG_008866.1:g.144449_144450insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC , LRG_766:g.144449_144450insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.935-29_935-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC
ENST00000688602.1:c.2332-29_2332-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC
ENST00000689936.1:c.2304-29_2304-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC
ENST00000359596.8:c.13999-29_13999-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC MANE Select	ENSP00000352608.2:n.13999-29_13999-28insAATTCTACGGAGGCGAACAAT...
ENST00000355481.8:c.13984-29_13984-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	ENSP00000347667.3:n.13984-29_13984-28insAATTCTACGGAGGCGAACAAT...
ENST00000359596.7:c.13999-29_13999-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	ENSP00000352608.2:n.13999-29_13999-28insAATTCTACGGAGGCGAACAAT...
ENST00000360985.7:c.13981-29_13981-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	ENSP00000354254.4:n.13981-29_13981-28insAATTCTACGGAGGCGAACAAT...
NM_000540.2:c.13999-29_13999-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC , LRG_766t1:c.13999-29_13999-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	NP_000531.2:n.13999-29_13999-28insAATTCTACGGAGGCGAACAATGCCCAG...
NM_001042723.1:c.13984-29_13984-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	NP_001036188.1:n.13984-29_13984-28insAATTCTACGGAGGCGAACAATGCC...
XM_006723317.1:c.13981-29_13981-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	XP_006723380.1:n.13981-29_13981-28insAATTCTACGGAGGCGAACAATGCC...
XM_006723319.1:c.13966-29_13966-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	XP_006723382.1:n.13966-29_13966-28insAATTCTACGGAGGCGAACAATGCC...
XM_011527204.1:c.13996-29_13996-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	XP_011525506.1:n.13996-29_13996-28insAATTCTACGGAGGCGAACAATGCC...
XM_011527205.1:c.13912-29_13912-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	XP_011525507.1:n.13912-29_13912-28insAATTCTACGGAGGCGAACAATGCC...
XM_006723317.2:c.13981-29_13981-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	XP_006723380.1:n.13981-29_13981-28insAATTCTACGGAGGCGAACAATGCC...
XM_006723319.2:c.13966-29_13966-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	XP_006723382.1:n.13966-29_13966-28insAATTCTACGGAGGCGAACAATGCC...
XM_011527205.2:c.13912-29_13912-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	XP_011525507.1:n.13912-29_13912-28insAATTCTACGGAGGCGAACAATGCC...
NM_000540.3:c.13999-29_13999-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC MANE Select	NP_000531.2:n.13999-29_13999-28insAATTCTACGGAGGCGAACAATGCCCAG...
NM_001042723.2:c.13984-29_13984-28insAATTCTACGGAGGCGAACAATGCCCAGTACAAGCCGATGAAGACGGGGATTTGCAACAGCATGGGCAGACAGCCGC	NP_001036188.1:n.13984-29_13984-28insAATTCTACGGAGGCGAACAATGCC...