Canonical Allele Identifier: CA2574035139

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677824_114677825insACTTCCTT , CM000663.2:g.114677824_114677825insACTTCCTT	GRCh38
NC_000001.10:g.115220445_115220446insACTTCCTT , CM000663.1:g.115220445_115220446insACTTCCTT	GRCh37
NC_000001.9:g.115021968_115021969insACTTCCTT	NCBI36
NG_008012.1:g.22738_22739insTAAGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+92_1212+93insTAAGGAAG	ENSP00000358551.4:n.1212+92_1212+93insTAAGGAAG
ENST00000520113.7:c.1224+92_1224+93insTAAGGAAG MANE Select	ENSP00000430075.3:n.1224+92_1224+93insTAAGGAAG
ENST00000637080.1:c.1007+92_1007+93insTAAGGAAG	ENSP00000489753.1:n.1007+92_1007+93insTAAGGAAG
ENST00000639077.1:n.889+92_889+93insTAAGGAAG
ENST00000369538.3:c.1311+92_1311+93insTAAGGAAG	ENSP00000358551.3:n.1311+92_1311+93insTAAGGAAG
ENST00000520113.6:c.1323+92_1323+93insTAAGGAAG	ENSP00000430075.2:n.1323+92_1323+93insTAAGGAAG
NM_000036.2:c.1323+92_1323+93insTAAGGAAG	NP_000027.2:n.1323+92_1323+93insTAAGGAAG
NM_001172626.1:c.1311+92_1311+93insTAAGGAAG	NP_001166097.1:n.1311+92_1311+93insTAAGGAAG
NM_000036.3:c.1224+92_1224+93insTAAGGAAG MANE Select	NP_000027.3:n.1224+92_1224+93insTAAGGAAG
NM_001172626.2:c.1212+92_1212+93insTAAGGAAG	NP_001166097.2:n.1212+92_1212+93insTAAGGAAG