Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588555_132588558delinsTATC , CM000667.2:g.132588555_132588558delinsTATC	GRCh38
NC_000005.9:g.131924247_131924250delinsTATC , CM000667.1:g.131924247_131924250delinsTATC	GRCh37
NC_000005.8:g.131952146_131952149delinsTATC	NCBI36
NG_021151.1:g.36632_36635delinsTATC
NG_021151.2:g.36579_36582delinsTATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1052-132_1052-129delinsTATC MANE Select	ENSP00000368100.4:n.1052-132_1052-129delinsTATC
ENST00000638452.2:c.755-132_755-129delinsTATC	ENSP00000492349.2:n.755-132_755-129delinsTATC
ENST00000638504.1:n.738-132_738-129delinsTATC
ENST00000638568.2:c.755-132_755-129delinsTATC	ENSP00000491158.2:n.755-132_755-129delinsTATC
ENST00000639899.1:n.1571-132_1571-129delinsTATC
ENST00000640655.2:c.755-132_755-129delinsTATC	ENSP00000491596.2:n.755-132_755-129delinsTATC
ENST00000651160.1:c.1052-132_1052-129delinsTATC	ENSP00000498829.1:n.1052-132_1052-129delinsTATC
ENST00000651541.1:c.755-132_755-129delinsTATC	ENSP00000498795.1:n.755-132_755-129delinsTATC
ENST00000651658.1:n.1479-132_1479-129delinsTATC
ENST00000651723.1:c.1135-132_1135-129delinsTATC	ENSP00000498237.1:n.1135-132_1135-129delinsTATC
ENST00000652016.1:c.1052-132_1052-129delinsTATC	ENSP00000498267.1:n.1052-132_1052-129delinsTATC
ENST00000652485.1:c.1052-132_1052-129delinsTATC	ENSP00000498973.1:n.1052-132_1052-129delinsTATC
ENST00000378823.7:c.1052-132_1052-129delinsTATC	ENSP00000368100.4:n.1052-132_1052-129delinsTATC
ENST00000423956.5:c.1052-132_1052-129delinsTATC	ENSP00000390971.1:n.1052-132_1052-129delinsTATC
ENST00000453394.5:c.1052-132_1052-129delinsTATC	ENSP00000400049.1:n.1052-132_1052-129delinsTATC
ENST00000487596.1:n.618-132_618-129delinsTATC
ENST00000533482.5:c.678-132_678-129delinsTATC	ENSP00000431225.1:n.678-132_678-129delinsTATC
NM_005732.3:c.1052-132_1052-129delinsTATC	NP_005723.2:n.1052-132_1052-129delinsTATC
NM_005732.4:c.1052-132_1052-129delinsTATC MANE Select	NP_005723.2:n.1052-132_1052-129delinsTATC