Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993449_66993451delinsCTA , CM000669.2:g.66993449_66993451delinsCTA	GRCh38
NC_000007.13:g.66458436_66458438delinsCTA , CM000669.1:g.66458436_66458438delinsCTA	GRCh37
NC_000007.12:g.66095871_66095873delinsCTA	NCBI36
NG_007277.1:g.7151_7153delinsTAG , LRG_104:g.7151_7153delinsTAG
NG_033069.1:g.1645_1647delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.251-34_251-32delinsTAG	ENSP00000394586.1:n.251-34_251-32delinsTAG
ENST00000697860.1:n.226-34_226-32delinsTAG
ENST00000697861.1:c.258+761_258+763delinsTAG	ENSP00000513460.1:n.258+761_258+763delinsTAG
ENST00000697862.1:c.259-34_259-32delinsTAG	ENSP00000513461.1:n.259-34_259-32delinsTAG
ENST00000697863.1:c.202-34_202-32delinsTAG	ENSP00000513462.1:n.202-34_202-32delinsTAG
ENST00000697864.1:n.1403-34_1403-32delinsTAG
ENST00000697865.1:c.202-34_202-32delinsTAG	ENSP00000513463.1:n.202-34_202-32delinsTAG
ENST00000697866.1:c.-60-34_-60-32delinsTAG	ENSP00000513464.1:n.-60-34_-60-32delinsTAG
ENST00000697867.1:c.99-34_99-32delinsTAG
ENST00000697868.1:c.23-34_23-32delinsTAG	ENSP00000513466.1:n.23-34_23-32delinsTAG
ENST00000697869.1:c.195-34_195-32delinsTAG	ENSP00000513467.1:n.195-34_195-32delinsTAG
ENST00000697897.1:c.259-34_259-32delinsTAG	ENSP00000513469.1:n.259-34_259-32delinsTAG
ENST00000246868.7:c.259-34_259-32delinsTAG MANE Select	ENSP00000246868.2:n.259-34_259-32delinsTAG
ENST00000246868.6:c.259-34_259-32delinsTAG	ENSP00000246868.2:n.259-34_259-32delinsTAG
ENST00000414306.5:c.251-34_251-32delinsTAG	ENSP00000394586.1:n.251-34_251-32delinsTAG
ENST00000463579.1:n.148-34_148-32delinsTAG
ENST00000490953.5:n.400-34_400-32delinsTAG
ENST00000617799.1:c.259-34_259-32delinsTAG	ENSP00000483040.1:n.259-34_259-32delinsTAG
NM_016038.2:c.259-34_259-32delinsTAG , LRG_104t1:c.259-34_259-32delinsTAG	NP_057122.2:n.259-34_259-32delinsTAG
NM_016038.3:c.259-34_259-32delinsTAG	NP_057122.2:n.259-34_259-32delinsTAG
NM_016038.4:c.259-34_259-32delinsTAG MANE Select	NP_057122.2:n.259-34_259-32delinsTAG