Canonical Allele Identifier: CA1190276558

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677848_114677849delinsTC , CM000663.2:g.114677848_114677849delinsTC	GRCh38
NC_000001.10:g.115220469_115220470delinsTC , CM000663.1:g.115220469_115220470delinsTC	GRCh37
NC_000001.9:g.115021992_115021993delinsTC	NCBI36
NG_008012.1:g.22707_22708delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+61_1212+62delinsGA	ENSP00000358551.4:n.1212+61_1212+62delinsGA
ENST00000520113.7:c.1224+61_1224+62delinsGA MANE Select	ENSP00000430075.3:n.1224+61_1224+62delinsGA
ENST00000637080.1:c.1007+61_1007+62delinsGA	ENSP00000489753.1:n.1007+61_1007+62delinsGA
ENST00000639077.1:n.889+61_889+62delinsGA
ENST00000369538.3:c.1311+61_1311+62delinsGA	ENSP00000358551.3:n.1311+61_1311+62delinsGA
ENST00000520113.6:c.1323+61_1323+62delinsGA	ENSP00000430075.2:n.1323+61_1323+62delinsGA
NM_000036.2:c.1323+61_1323+62delinsGA	NP_000027.2:n.1323+61_1323+62delinsGA
NM_001172626.1:c.1311+61_1311+62delinsGA	NP_001166097.1:n.1311+61_1311+62delinsGA
NM_000036.3:c.1224+61_1224+62delinsGA MANE Select	NP_000027.3:n.1224+61_1224+62delinsGA
NM_001172626.2:c.1212+61_1212+62delinsGA	NP_001166097.2:n.1212+61_1212+62delinsGA