Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38578268_38578271delinsACGT , CM000681.2:g.38578268_38578271delinsACGT	GRCh38
NC_000019.9:g.39068908_39068911delinsACGT , CM000681.1:g.39068908_39068911delinsACGT	GRCh37
NC_000019.8:g.43760748_43760751delinsACGT	NCBI36
NG_008866.1:g.149569_149572delinsACGT , LRG_766:g.149569_149572delinsACGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1300+64_1300+67delinsACGT
ENST00000688602.1:c.2697+64_2697+67delinsACGT
ENST00000689936.1:c.2669+64_2669+67delinsACGT
ENST00000359596.8:c.14364+64_14364+67delinsACGT MANE Select	ENSP00000352608.2:n.14364+64_14364+67delinsACGT
ENST00000355481.8:c.14349+64_14349+67delinsACGT	ENSP00000347667.3:n.14349+64_14349+67delinsACGT
ENST00000359596.7:c.14364+64_14364+67delinsACGT	ENSP00000352608.2:n.14364+64_14364+67delinsACGT
ENST00000360985.7:c.14346+64_14346+67delinsACGT	ENSP00000354254.4:n.14346+64_14346+67delinsACGT
NM_000540.2:c.14364+64_14364+67delinsACGT , LRG_766t1:c.14364+64_14364+67delinsACGT	NP_000531.2:n.14364+64_14364+67delinsACGT
NM_001042723.1:c.14349+64_14349+67delinsACGT	NP_001036188.1:n.14349+64_14349+67delinsACGT
XM_006723317.1:c.14346+64_14346+67delinsACGT	XP_006723380.1:n.14346+64_14346+67delinsACGT
XM_006723319.1:c.14331+64_14331+67delinsACGT	XP_006723382.1:n.14331+64_14331+67delinsACGT
XM_011527204.1:c.14361+64_14361+67delinsACGT	XP_011525506.1:n.14361+64_14361+67delinsACGT
XM_011527205.1:c.14277+64_14277+67delinsACGT	XP_011525507.1:n.14277+64_14277+67delinsACGT
XM_006723317.2:c.14346+64_14346+67delinsACGT	XP_006723380.1:n.14346+64_14346+67delinsACGT
XM_006723319.2:c.14331+64_14331+67delinsACGT	XP_006723382.1:n.14331+64_14331+67delinsACGT
XM_011527205.2:c.14277+64_14277+67delinsACGT	XP_011525507.1:n.14277+64_14277+67delinsACGT
NM_000540.3:c.14364+64_14364+67delinsACGT MANE Select	NP_000531.2:n.14364+64_14364+67delinsACGT
NM_001042723.2:c.14349+64_14349+67delinsACGT	NP_001036188.1:n.14349+64_14349+67delinsACGT