Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736324_3736326delinsTGC , CM000678.2:g.3736324_3736326delinsTGC	GRCh38
NC_000016.9:g.3786325_3786327delinsTGC , CM000678.1:g.3786325_3786327delinsTGC	GRCh37
NC_000016.8:g.3726326_3726328delinsTGC	NCBI36
NG_009873.1:g.148795_148797delinsGCA
NG_009873.2:g.149388_149390delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-123_4561-121delinsGCA MANE Select	ENSP00000262367.5:n.4561-123_4561-121delinsGCA
ENST00000262367.9:c.4561-123_4561-121delinsGCA	ENSP00000262367.5:n.4561-123_4561-121delinsGCA
ENST00000382070.7:c.4447-123_4447-121delinsGCA	ENSP00000371502.3:n.4447-123_4447-121delinsGCA
ENST00000570939.2:c.3196-123_3196-121delinsGCA	ENSP00000461002.2:n.3196-123_3196-121delinsGCA
ENST00000571763.5:n.351-123_351-121delinsGCA
ENST00000576720.1:n.3384-123_3384-121delinsGCA
NM_001079846.1:c.4447-123_4447-121delinsGCA	NP_001073315.1:n.4447-123_4447-121delinsGCA
NM_004380.2:c.4561-123_4561-121delinsGCA	NP_004371.2:n.4561-123_4561-121delinsGCA
XM_005255124.3:c.4516-123_4516-121delinsGCA	XP_005255181.1:n.4516-123_4516-121delinsGCA
XM_005255125.3:c.4144-123_4144-121delinsGCA	XP_005255182.1:n.4144-123_4144-121delinsGCA
XM_006720848.2:c.4300-123_4300-121delinsGCA	XP_006720911.1:n.4300-123_4300-121delinsGCA
XM_011522380.1:c.4507-123_4507-121delinsGCA	XP_011520682.1:n.4507-123_4507-121delinsGCA
XM_011522381.1:c.3808-123_3808-121delinsGCA	XP_011520683.1:n.3808-123_3808-121delinsGCA
XM_005255124.4:c.4516-123_4516-121delinsGCA	XP_005255181.1:n.4516-123_4516-121delinsGCA
XM_005255125.4:c.4144-123_4144-121delinsGCA	XP_005255182.1:n.4144-123_4144-121delinsGCA
XM_006720848.3:c.4300-123_4300-121delinsGCA	XP_006720911.1:n.4300-123_4300-121delinsGCA
XM_011522381.2:c.3808-123_3808-121delinsGCA	XP_011520683.1:n.3808-123_3808-121delinsGCA
XM_017022944.1:c.4555-123_4555-121delinsGCA	XP_016878433.1:n.4555-123_4555-121delinsGCA
NM_004380.3:c.4561-123_4561-121delinsGCA MANE Select	NP_004371.2:n.4561-123_4561-121delinsGCA