Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502820_38502828delinsGGCAGGGGC , CM000681.2:g.38502820_38502828delinsGGCAGGGGC	GRCh38
NC_000019.9:g.38993460_38993468delinsGGCAGGGGC , CM000681.1:g.38993460_38993468delinsGGCAGGGGC	GRCh37
NC_000019.8:g.43685300_43685308delinsGGCAGGGGC	NCBI36
NG_008866.1:g.74121_74129delinsGGCAGGGGC , LRG_766:g.74121_74129delinsGGCAGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-60_7836-52delinsGGCAGGGGC	ENSP00000471601.2:n.7836-60_7836-52delinsGGCAGGGGC
ENST00000359596.8:c.7836-60_7836-52delinsGGCAGGGGC MANE Select	ENSP00000352608.2:n.7836-60_7836-52delinsGGCAGGGGC
ENST00000355481.8:c.7836-60_7836-52delinsGGCAGGGGC	ENSP00000347667.3:n.7836-60_7836-52delinsGGCAGGGGC
ENST00000359596.7:c.7836-60_7836-52delinsGGCAGGGGC	ENSP00000352608.2:n.7836-60_7836-52delinsGGCAGGGGC
ENST00000360985.7:c.7833-60_7833-52delinsGGCAGGGGC	ENSP00000354254.4:n.7833-60_7833-52delinsGGCAGGGGC
ENST00000594335.5:c.1288-60_1288-52delinsGGCAGGGGC
NM_000540.2:c.7836-60_7836-52delinsGGCAGGGGC , LRG_766t1:c.7836-60_7836-52delinsGGCAGGGGC	NP_000531.2:n.7836-60_7836-52delinsGGCAGGGGC
NM_001042723.1:c.7836-60_7836-52delinsGGCAGGGGC	NP_001036188.1:n.7836-60_7836-52delinsGGCAGGGGC
XM_006723317.1:c.7836-60_7836-52delinsGGCAGGGGC	XP_006723380.1:n.7836-60_7836-52delinsGGCAGGGGC
XM_006723319.1:c.7836-60_7836-52delinsGGCAGGGGC	XP_006723382.1:n.7836-60_7836-52delinsGGCAGGGGC
XM_011527204.1:c.7833-60_7833-52delinsGGCAGGGGC	XP_011525506.1:n.7833-60_7833-52delinsGGCAGGGGC
XM_011527205.1:c.7836-60_7836-52delinsGGCAGGGGC	XP_011525507.1:n.7836-60_7836-52delinsGGCAGGGGC
XM_006723317.2:c.7836-60_7836-52delinsGGCAGGGGC	XP_006723380.1:n.7836-60_7836-52delinsGGCAGGGGC
XM_006723319.2:c.7836-60_7836-52delinsGGCAGGGGC	XP_006723382.1:n.7836-60_7836-52delinsGGCAGGGGC
XM_011527205.2:c.7836-60_7836-52delinsGGCAGGGGC	XP_011525507.1:n.7836-60_7836-52delinsGGCAGGGGC
XR_001753735.1:n.7919-60_7919-52delinsGGCAGGGGC
NM_000540.3:c.7836-60_7836-52delinsGGCAGGGGC MANE Select	NP_000531.2:n.7836-60_7836-52delinsGGCAGGGGC
NM_001042723.2:c.7836-60_7836-52delinsGGCAGGGGC	NP_001036188.1:n.7836-60_7836-52delinsGGCAGGGGC