Canonical Allele Identifier: CA2550619177

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677829_114677830insTT , CM000663.2:g.114677829_114677830insTT	GRCh38
NC_000001.10:g.115220450_115220451insTT , CM000663.1:g.115220450_115220451insTT	GRCh37
NC_000001.9:g.115021973_115021974insTT	NCBI36
NG_008012.1:g.22726_22727insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+80_1212+81insAA	ENSP00000358551.4:n.1212+80_1212+81insAA
ENST00000520113.7:c.1224+80_1224+81insAA MANE Select	ENSP00000430075.3:n.1224+80_1224+81insAA
ENST00000637080.1:c.1007+80_1007+81insAA	ENSP00000489753.1:n.1007+80_1007+81insAA
ENST00000639077.1:n.889+80_889+81insAA
ENST00000369538.3:c.1311+80_1311+81insAA	ENSP00000358551.3:n.1311+80_1311+81insAA
ENST00000520113.6:c.1323+80_1323+81insAA	ENSP00000430075.2:n.1323+80_1323+81insAA
NM_000036.2:c.1323+80_1323+81insAA	NP_000027.2:n.1323+80_1323+81insAA
NM_001172626.1:c.1311+80_1311+81insAA	NP_001166097.1:n.1311+80_1311+81insAA
NM_000036.3:c.1224+80_1224+81insAA MANE Select	NP_000027.3:n.1224+80_1224+81insAA
NM_001172626.2:c.1212+80_1212+81insAA	NP_001166097.2:n.1212+80_1212+81insAA