Canonical Allele Identifier: CA2745133623

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677803_114677813del , CM000663.2:g.114677803_114677813del	GRCh38
NC_000001.10:g.115220424_115220434del , CM000663.1:g.115220424_115220434del	GRCh37
NC_000001.9:g.115021947_115021957del	NCBI36
NG_008012.1:g.22744_22754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+98_1212+108del	ENSP00000358551.4:n.1212+98_1212+108del
ENST00000520113.7:c.1224+98_1224+108del MANE Select	ENSP00000430075.3:n.1224+98_1224+108del
ENST00000637080.1:c.1007+98_1007+108del	ENSP00000489753.1:n.1007+98_1007+108del
ENST00000639077.1:n.889+98_889+108del
ENST00000369538.3:c.1311+98_1311+108del	ENSP00000358551.3:n.1311+98_1311+108del
ENST00000520113.6:c.1323+98_1323+108del	ENSP00000430075.2:n.1323+98_1323+108del
NM_000036.2:c.1323+98_1323+108del	NP_000027.2:n.1323+98_1323+108del
NM_001172626.1:c.1311+98_1311+108del	NP_001166097.1:n.1311+98_1311+108del
NM_000036.3:c.1224+98_1224+108del MANE Select	NP_000027.3:n.1224+98_1224+108del
NM_001172626.2:c.1212+98_1212+108del	NP_001166097.2:n.1212+98_1212+108del