Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108156955_108156960delinsTGTGAG , CM000685.2:g.108156955_108156960delinsTGTGAG	GRCh38
NC_000023.10:g.107400185_107400190delinsTGTGAG , CM000685.1:g.107400185_107400190delinsTGTGAG	GRCh37
NC_000023.9:g.107286841_107286846delinsTGTGAG	NCBI36
NG_012059.2:g.287515_287520delinsCTCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.40_45delinsCTCACA MANE Select	ENSP00000334733.7:n.40_45delinsCTCACA
ENST00000334504.11:c.40_45delinsCTCACA	ENSP00000334733.7:n.40_45delinsCTCACA
ENST00000372216.8:c.40_45delinsCTCACA	ENSP00000361290.4:n.40_45delinsCTCACA
ENST00000394872.6:c.40_45delinsCTCACA	ENSP00000378340.3:n.40_45delinsCTCACA
ENST00000538570.5:c.40_45delinsCTCACA	ENSP00000445236.1:n.40_45delinsCTCACA
ENST00000545689.2:c.40_45delinsCTCACA	ENSP00000443707.2:n.40_45delinsCTCACA
ENST00000621266.4:c.40_45delinsCTCACA	ENSP00000482970.1:n.40_45delinsCTCACA
NM_001287758.1:c.40_45delinsCTCACA	NP_001274687.1:n.40_45delinsCTCACA
NM_001287759.1:c.40_45delinsCTCACA	NP_001274688.1:n.40_45delinsCTCACA
NM_001287760.1:c.40_45delinsCTCACA	NP_001274689.1:n.40_45delinsCTCACA
NM_001847.3:c.40_45delinsCTCACA	NP_001838.2:n.40_45delinsCTCACA
NM_033641.3:c.40_45delinsCTCACA	NP_378667.1:n.40_45delinsCTCACA
XM_006724617.2:c.40_45delinsCTCACA	XP_006724680.1:n.40_45delinsCTCACA
XM_011530852.1:c.40_45delinsCTCACA	XP_011529154.1:n.40_45delinsCTCACA
XM_011530853.1:c.40_45delinsCTCACA	XP_011529155.1:n.40_45delinsCTCACA
XM_006724617.3:c.40_45delinsCTCACA	XP_006724680.1:n.40_45delinsCTCACA
XM_011530852.2:c.40_45delinsCTCACA	XP_011529154.1:n.40_45delinsCTCACA
XM_011530853.3:c.40_45delinsCTCACA	XP_011529155.1:n.40_45delinsCTCACA
NM_001847.4:c.40_45delinsCTCACA	NP_001838.2:n.40_45delinsCTCACA
NM_033641.4:c.40_45delinsCTCACA MANE Select	NP_378667.1:n.40_45delinsCTCACA
NM_001287758.2:c.40_45delinsCTCACA	NP_001274687.1:n.40_45delinsCTCACA
NM_001287759.2:c.40_45delinsCTCACA	NP_001274688.1:n.40_45delinsCTCACA
NM_001287760.2:c.40_45delinsCTCACA	NP_001274689.1:n.40_45delinsCTCACA

HGVS	Amino-acid Change
ENST00000334504.12:c.40_45delinsCTCACA MANE Select	ENSP00000334733.7:n.40_45delinsCTCACA
ENST00000334504.11:c.40_45delinsCTCACA	ENSP00000334733.7:n.40_45delinsCTCACA
ENST00000372216.8:c.40_45delinsCTCACA	ENSP00000361290.4:n.40_45delinsCTCACA
ENST00000394872.6:c.40_45delinsCTCACA	ENSP00000378340.3:n.40_45delinsCTCACA
ENST00000538570.5:c.40_45delinsCTCACA	ENSP00000445236.1:n.40_45delinsCTCACA
ENST00000545689.2:c.40_45delinsCTCACA	ENSP00000443707.2:n.40_45delinsCTCACA
ENST00000621266.4:c.40_45delinsCTCACA	ENSP00000482970.1:n.40_45delinsCTCACA
NM_001287758.1:c.40_45delinsCTCACA	NP_001274687.1:n.40_45delinsCTCACA
NM_001287759.1:c.40_45delinsCTCACA	NP_001274688.1:n.40_45delinsCTCACA
NM_001287760.1:c.40_45delinsCTCACA	NP_001274689.1:n.40_45delinsCTCACA
NM_001847.3:c.40_45delinsCTCACA	NP_001838.2:n.40_45delinsCTCACA
NM_033641.3:c.40_45delinsCTCACA	NP_378667.1:n.40_45delinsCTCACA
XM_006724617.2:c.40_45delinsCTCACA	XP_006724680.1:n.40_45delinsCTCACA
XM_011530852.1:c.40_45delinsCTCACA	XP_011529154.1:n.40_45delinsCTCACA
XM_011530853.1:c.40_45delinsCTCACA	XP_011529155.1:n.40_45delinsCTCACA
XM_006724617.3:c.40_45delinsCTCACA	XP_006724680.1:n.40_45delinsCTCACA
XM_011530852.2:c.40_45delinsCTCACA	XP_011529154.1:n.40_45delinsCTCACA
XM_011530853.3:c.40_45delinsCTCACA	XP_011529155.1:n.40_45delinsCTCACA
NM_001847.4:c.40_45delinsCTCACA	NP_001838.2:n.40_45delinsCTCACA
NM_033641.4:c.40_45delinsCTCACA MANE Select	NP_378667.1:n.40_45delinsCTCACA
NM_001287758.2:c.40_45delinsCTCACA	NP_001274687.1:n.40_45delinsCTCACA
NM_001287759.2:c.40_45delinsCTCACA	NP_001274688.1:n.40_45delinsCTCACA
NM_001287760.2:c.40_45delinsCTCACA	NP_001274689.1:n.40_45delinsCTCACA