Canonical Allele Identifier: CA1190276437

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677771_114677772delinsTC , CM000663.2:g.114677771_114677772delinsTC	GRCh38
NC_000001.10:g.115220392_115220393delinsTC , CM000663.1:g.115220392_115220393delinsTC	GRCh37
NC_000001.9:g.115021915_115021916delinsTC	NCBI36
NG_008012.1:g.22784_22785delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+138_1212+139delinsGA	ENSP00000358551.4:n.1212+138_1212+139delinsGA
ENST00000520113.7:c.1224+138_1224+139delinsGA MANE Select	ENSP00000430075.3:n.1224+138_1224+139delinsGA
ENST00000637080.1:c.1007+138_1007+139delinsGA	ENSP00000489753.1:n.1007+138_1007+139delinsGA
ENST00000639077.1:n.889+138_889+139delinsGA
ENST00000369538.3:c.1311+138_1311+139delinsGA	ENSP00000358551.3:n.1311+138_1311+139delinsGA
ENST00000520113.6:c.1323+138_1323+139delinsGA	ENSP00000430075.2:n.1323+138_1323+139delinsGA
NM_000036.2:c.1323+138_1323+139delinsGA	NP_000027.2:n.1323+138_1323+139delinsGA
NM_001172626.1:c.1311+138_1311+139delinsGA	NP_001166097.1:n.1311+138_1311+139delinsGA
NM_000036.3:c.1224+138_1224+139delinsGA MANE Select	NP_000027.3:n.1224+138_1224+139delinsGA
NM_001172626.2:c.1212+138_1212+139delinsGA	NP_001166097.2:n.1212+138_1212+139delinsGA