Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137142137_137142139del , CM000671.2:g.137142137_137142139del	GRCh38
NC_000009.11:g.140036589_140036591del , CM000671.1:g.140036589_140036591del	GRCh37
NC_000009.10:g.139156410_139156412del	NCBI36
NG_011507.1:g.7981_7983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.383_385del	ENSP00000360608.3:p.Tyr128del
ENST00000371560.5:c.383_385del	ENSP00000360615.3:p.Tyr128del
ENST00000371561.8:c.383_385del MANE Select	ENSP00000360616.3:p.Tyr128del
ENST00000350902.9:c.383_385del	ENSP00000316915.9:p.Tyr128del
ENST00000371546.8:c.383_385del	ENSP00000360601.4:p.Tyr128del
ENST00000371550.8:c.383_385del	ENSP00000360605.4:p.Tyr128del
ENST00000371553.7:c.383_385del	ENSP00000360608.3:p.Tyr128del
ENST00000371555.8:c.383_385del	ENSP00000360610.4:p.Tyr128del
ENST00000371559.8:c.383_385del	ENSP00000360614.4:p.Tyr128del
ENST00000371560.4:c.383_385del	ENSP00000360615.3:p.Tyr128del
ENST00000371561.7:c.383_385del	ENSP00000360616.3:p.Tyr128del
ENST00000471122.5:n.460_462del
NM_000832.6:c.383_385del	NP_000823.4:p.Tyr128del
NM_001185090.1:c.383_385del	NP_001172019.1:p.Tyr128del
NM_001185091.1:c.383_385del	NP_001172020.1:p.Tyr128del
NM_007327.3:c.383_385del	NP_015566.1:p.Tyr128del
NM_021569.3:c.383_385del	NP_067544.1:p.Tyr128del
XM_005266071.2:c.383_385del	XP_005266128.1:p.Tyr128del
XM_005266072.2:c.383_385del	XP_005266129.1:p.Tyr128del
XM_005266073.3:c.383_385del	XP_005266130.1:p.Tyr128del
XM_011518583.1:c.383_385del	XP_011516885.1:p.Tyr128del
XM_005266071.3:c.383_385del	XP_005266128.1:p.Tyr128del
XM_005266072.3:c.383_385del	XP_005266129.1:p.Tyr128del
XM_005266073.4:c.383_385del	XP_005266130.1:p.Tyr128del
XM_011518583.2:c.383_385del	XP_011516885.1:p.Tyr128del
NM_007327.4:c.383_385del MANE Select	NP_015566.1:p.Tyr128del
NM_000832.7:c.383_385del	NP_000823.4:p.Tyr128del
NM_001185090.2:c.383_385del	NP_001172019.1:p.Tyr128del
NM_001185091.2:c.383_385del	NP_001172020.1:p.Tyr128del
NM_021569.4:c.383_385del	NP_067544.1:p.Tyr128del