Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736306_3736308delinsCAG , CM000678.2:g.3736306_3736308delinsCAG	GRCh38
NC_000016.9:g.3786307_3786309delinsCAG , CM000678.1:g.3786307_3786309delinsCAG	GRCh37
NC_000016.8:g.3726308_3726310delinsCAG	NCBI36
NG_009873.1:g.148813_148815delinsCTG
NG_009873.2:g.149406_149408delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-105_4561-103delinsCTG MANE Select	ENSP00000262367.5:n.4561-105_4561-103delinsCTG
ENST00000262367.9:c.4561-105_4561-103delinsCTG	ENSP00000262367.5:n.4561-105_4561-103delinsCTG
ENST00000382070.7:c.4447-105_4447-103delinsCTG	ENSP00000371502.3:n.4447-105_4447-103delinsCTG
ENST00000570939.2:c.3196-105_3196-103delinsCTG	ENSP00000461002.2:n.3196-105_3196-103delinsCTG
ENST00000571763.5:n.351-105_351-103delinsCTG
ENST00000576720.1:n.3384-105_3384-103delinsCTG
NM_001079846.1:c.4447-105_4447-103delinsCTG	NP_001073315.1:n.4447-105_4447-103delinsCTG
NM_004380.2:c.4561-105_4561-103delinsCTG	NP_004371.2:n.4561-105_4561-103delinsCTG
XM_005255124.3:c.4516-105_4516-103delinsCTG	XP_005255181.1:n.4516-105_4516-103delinsCTG
XM_005255125.3:c.4144-105_4144-103delinsCTG	XP_005255182.1:n.4144-105_4144-103delinsCTG
XM_006720848.2:c.4300-105_4300-103delinsCTG	XP_006720911.1:n.4300-105_4300-103delinsCTG
XM_011522380.1:c.4507-105_4507-103delinsCTG	XP_011520682.1:n.4507-105_4507-103delinsCTG
XM_011522381.1:c.3808-105_3808-103delinsCTG	XP_011520683.1:n.3808-105_3808-103delinsCTG
XM_005255124.4:c.4516-105_4516-103delinsCTG	XP_005255181.1:n.4516-105_4516-103delinsCTG
XM_005255125.4:c.4144-105_4144-103delinsCTG	XP_005255182.1:n.4144-105_4144-103delinsCTG
XM_006720848.3:c.4300-105_4300-103delinsCTG	XP_006720911.1:n.4300-105_4300-103delinsCTG
XM_011522381.2:c.3808-105_3808-103delinsCTG	XP_011520683.1:n.3808-105_3808-103delinsCTG
XM_017022944.1:c.4555-105_4555-103delinsCTG	XP_016878433.1:n.4555-105_4555-103delinsCTG
NM_004380.3:c.4561-105_4561-103delinsCTG MANE Select	NP_004371.2:n.4561-105_4561-103delinsCTG