Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502829_38502847delinsAGCAGAGCGGGCCTGGACG , CM000681.2:g.38502829_38502847delinsAGCAGAGCGGGCCTGGACG	GRCh38
NC_000019.9:g.38993469_38993487delinsAGCAGAGCGGGCCTGGACG , CM000681.1:g.38993469_38993487delinsAGCAGAGCGGGCCTGGACG	GRCh37
NC_000019.8:g.43685309_43685327delinsAGCAGAGCGGGCCTGGACG	NCBI36
NG_008866.1:g.74130_74148delinsAGCAGAGCGGGCCTGGACG , LRG_766:g.74130_74148delinsAGCAGAGCGGGCCTGGACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	ENSP00000471601.2:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
ENST00000359596.8:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG MANE Select	ENSP00000352608.2:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
ENST00000355481.8:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	ENSP00000347667.3:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
ENST00000359596.7:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	ENSP00000352608.2:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
ENST00000360985.7:c.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG	ENSP00000354254.4:n.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG
ENST00000594335.5:c.1288-51_1288-33delinsAGCAGAGCGGGCCTGGACG
NM_000540.2:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG , LRG_766t1:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	NP_000531.2:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
NM_001042723.1:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	NP_001036188.1:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
XM_006723317.1:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	XP_006723380.1:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
XM_006723319.1:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	XP_006723382.1:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
XM_011527204.1:c.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG	XP_011525506.1:n.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG
XM_011527205.1:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	XP_011525507.1:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
XM_006723317.2:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	XP_006723380.1:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
XM_006723319.2:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	XP_006723382.1:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
XM_011527205.2:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	XP_011525507.1:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
XR_001753735.1:n.7919-51_7919-33delinsAGCAGAGCGGGCCTGGACG
NM_000540.3:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG MANE Select	NP_000531.2:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG
NM_001042723.2:c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG	NP_001036188.1:n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG