Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736319_3736321delinsATG , CM000678.2:g.3736319_3736321delinsATG	GRCh38
NC_000016.9:g.3786320_3786322delinsATG , CM000678.1:g.3786320_3786322delinsATG	GRCh37
NC_000016.8:g.3726321_3726323delinsATG	NCBI36
NG_009873.1:g.148800_148802delinsCAT
NG_009873.2:g.149393_149395delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-118_4561-116delinsCAT MANE Select	ENSP00000262367.5:n.4561-118_4561-116delinsCAT
ENST00000262367.9:c.4561-118_4561-116delinsCAT	ENSP00000262367.5:n.4561-118_4561-116delinsCAT
ENST00000382070.7:c.4447-118_4447-116delinsCAT	ENSP00000371502.3:n.4447-118_4447-116delinsCAT
ENST00000570939.2:c.3196-118_3196-116delinsCAT	ENSP00000461002.2:n.3196-118_3196-116delinsCAT
ENST00000571763.5:n.351-118_351-116delinsCAT
ENST00000576720.1:n.3384-118_3384-116delinsCAT
NM_001079846.1:c.4447-118_4447-116delinsCAT	NP_001073315.1:n.4447-118_4447-116delinsCAT
NM_004380.2:c.4561-118_4561-116delinsCAT	NP_004371.2:n.4561-118_4561-116delinsCAT
XM_005255124.3:c.4516-118_4516-116delinsCAT	XP_005255181.1:n.4516-118_4516-116delinsCAT
XM_005255125.3:c.4144-118_4144-116delinsCAT	XP_005255182.1:n.4144-118_4144-116delinsCAT
XM_006720848.2:c.4300-118_4300-116delinsCAT	XP_006720911.1:n.4300-118_4300-116delinsCAT
XM_011522380.1:c.4507-118_4507-116delinsCAT	XP_011520682.1:n.4507-118_4507-116delinsCAT
XM_011522381.1:c.3808-118_3808-116delinsCAT	XP_011520683.1:n.3808-118_3808-116delinsCAT
XM_005255124.4:c.4516-118_4516-116delinsCAT	XP_005255181.1:n.4516-118_4516-116delinsCAT
XM_005255125.4:c.4144-118_4144-116delinsCAT	XP_005255182.1:n.4144-118_4144-116delinsCAT
XM_006720848.3:c.4300-118_4300-116delinsCAT	XP_006720911.1:n.4300-118_4300-116delinsCAT
XM_011522381.2:c.3808-118_3808-116delinsCAT	XP_011520683.1:n.3808-118_3808-116delinsCAT
XM_017022944.1:c.4555-118_4555-116delinsCAT	XP_016878433.1:n.4555-118_4555-116delinsCAT
NM_004380.3:c.4561-118_4561-116delinsCAT MANE Select	NP_004371.2:n.4561-118_4561-116delinsCAT