Canonical Allele Identifier: CA2745133625

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677804_114677805insGCTT , CM000663.2:g.114677804_114677805insGCTT	GRCh38
NC_000001.10:g.115220425_115220426insGCTT , CM000663.1:g.115220425_115220426insGCTT	GRCh37
NC_000001.9:g.115021948_115021949insGCTT	NCBI36
NG_008012.1:g.22754_22755insCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+108_1212+109insCAAG	ENSP00000358551.4:n.1212+108_1212+109insCAAG
ENST00000520113.7:c.1224+108_1224+109insCAAG MANE Select	ENSP00000430075.3:n.1224+108_1224+109insCAAG
ENST00000637080.1:c.1007+108_1007+109insCAAG	ENSP00000489753.1:n.1007+108_1007+109insCAAG
ENST00000639077.1:n.889+108_889+109insCAAG
ENST00000369538.3:c.1311+108_1311+109insCAAG	ENSP00000358551.3:n.1311+108_1311+109insCAAG
ENST00000520113.6:c.1323+108_1323+109insCAAG	ENSP00000430075.2:n.1323+108_1323+109insCAAG
NM_000036.2:c.1323+108_1323+109insCAAG	NP_000027.2:n.1323+108_1323+109insCAAG
NM_001172626.1:c.1311+108_1311+109insCAAG	NP_001166097.1:n.1311+108_1311+109insCAAG
NM_000036.3:c.1224+108_1224+109insCAAG MANE Select	NP_000027.3:n.1224+108_1224+109insCAAG
NM_001172626.2:c.1212+108_1212+109insCAAG	NP_001166097.2:n.1212+108_1212+109insCAAG