Canonical Allele Identifier: CA2745133631

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677816_114677817insACTTCCTT , CM000663.2:g.114677816_114677817insACTTCCTT	GRCh38
NC_000001.10:g.115220437_115220438insACTTCCTT , CM000663.1:g.115220437_115220438insACTTCCTT	GRCh37
NC_000001.9:g.115021960_115021961insACTTCCTT	NCBI36
NG_008012.1:g.22746_22747insTAAGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+100_1212+101insTAAGGAAG	ENSP00000358551.4:n.1212+100_1212+101insTAAGGAAG
ENST00000520113.7:c.1224+100_1224+101insTAAGGAAG MANE Select	ENSP00000430075.3:n.1224+100_1224+101insTAAGGAAG
ENST00000637080.1:c.1007+100_1007+101insTAAGGAAG	ENSP00000489753.1:n.1007+100_1007+101insTAAGGAAG
ENST00000639077.1:n.889+100_889+101insTAAGGAAG
ENST00000369538.3:c.1311+100_1311+101insTAAGGAAG	ENSP00000358551.3:n.1311+100_1311+101insTAAGGAAG
ENST00000520113.6:c.1323+100_1323+101insTAAGGAAG	ENSP00000430075.2:n.1323+100_1323+101insTAAGGAAG
NM_000036.2:c.1323+100_1323+101insTAAGGAAG	NP_000027.2:n.1323+100_1323+101insTAAGGAAG
NM_001172626.1:c.1311+100_1311+101insTAAGGAAG	NP_001166097.1:n.1311+100_1311+101insTAAGGAAG
NM_000036.3:c.1224+100_1224+101insTAAGGAAG MANE Select	NP_000027.3:n.1224+100_1224+101insTAAGGAAG
NM_001172626.2:c.1212+100_1212+101insTAAGGAAG	NP_001166097.2:n.1212+100_1212+101insTAAGGAAG