Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30186758_30186759delinsCT , CM000678.2:g.30186758_30186759delinsCT	GRCh38
NC_000016.9:g.30198079_30198080delinsCT , CM000678.1:g.30198079_30198080delinsCT	GRCh37
NC_000016.8:g.30105580_30105581delinsCT	NCBI36
NG_023415.1:g.8154_8155delinsCT , LRG_195:g.8154_8155delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696217.1:n.345_346delinsCT
ENST00000219150.10:c.321+38_321+39delinsCT MANE Select	ENSP00000219150.6:n.321+38_321+39delinsCT
ENST00000219150.9:c.321+38_321+39delinsCT	ENSP00000219150.5:n.321+38_321+39delinsCT
ENST00000561815.5:c.429+38_429+39delinsCT	ENSP00000456756.1:n.429+38_429+39delinsCT
ENST00000563778.5:c.321+38_321+39delinsCT	ENSP00000456266.1:n.321+38_321+39delinsCT
ENST00000564768.1:n.77_78delinsCT
ENST00000565497.5:c.321+38_321+39delinsCT	ENSP00000456457.1:n.321+38_321+39delinsCT
ENST00000567034.5:n.789+38_789+39delinsCT
ENST00000568763.1:n.1633+38_1633+39delinsCT
ENST00000568982.5:n.439+38_439+39delinsCT
ENST00000569203.5:c.321+38_321+39delinsCT	ENSP00000454752.1:n.321+38_321+39delinsCT
ENST00000569469.1:n.431+38_431+39delinsCT
ENST00000569970.1:c.321+38_321+39delinsCT	ENSP00000457509.1:n.321+38_321+39delinsCT
ENST00000570045.5:c.321+38_321+39delinsCT	ENSP00000455552.1:n.321+38_321+39delinsCT
ENST00000570244.5:c.199-58_199-57delinsCT	ENSP00000457332.1:n.199-58_199-57delinsCT
NM_001193333.2:c.321+38_321+39delinsCT	NP_001180262.1:n.321+38_321+39delinsCT
NM_007074.3:c.321+38_321+39delinsCT	NP_009005.1:n.321+38_321+39delinsCT
XM_011545714.1:c.321+38_321+39delinsCT	XP_011544016.1:n.321+38_321+39delinsCT
XM_011545714.2:c.321+38_321+39delinsCT	XP_011544016.1:n.321+38_321+39delinsCT
XM_017022885.2:c.321+38_321+39delinsCT	XP_016878374.1:n.321+38_321+39delinsCT
XM_017022886.1:c.321+38_321+39delinsCT	XP_016878375.1:n.321+38_321+39delinsCT
NM_007074.4:c.321+38_321+39delinsCT MANE Select	NP_009005.1:n.321+38_321+39delinsCT
NM_001193333.3:c.321+38_321+39delinsCT	NP_001180262.1:n.321+38_321+39delinsCT