Canonical Allele Identifier: CA2745133622

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677810_114677811insGTCCTTCCTTCC , CM000663.2:g.114677810_114677811insGTCCTTCCTTCC	GRCh38
NC_000001.10:g.115220431_115220432insGTCCTTCCTTCC , CM000663.1:g.115220431_115220432insGTCCTTCCTTCC	GRCh37
NC_000001.9:g.115021954_115021955insGTCCTTCCTTCC	NCBI36
NG_008012.1:g.22756_22757insCGGAAGGAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+110_1212+111insCGGAAGGAAGGA	ENSP00000358551.4:n.1212+110_1212+111insCGGAAGGAAGGA
ENST00000520113.7:c.1224+110_1224+111insCGGAAGGAAGGA MANE Select	ENSP00000430075.3:n.1224+110_1224+111insCGGAAGGAAGGA
ENST00000637080.1:c.1007+110_1007+111insCGGAAGGAAGGA	ENSP00000489753.1:n.1007+110_1007+111insCGGAAGGAAGGA
ENST00000639077.1:n.889+110_889+111insCGGAAGGAAGGA
ENST00000369538.3:c.1311+110_1311+111insCGGAAGGAAGGA	ENSP00000358551.3:n.1311+110_1311+111insCGGAAGGAAGGA
ENST00000520113.6:c.1323+110_1323+111insCGGAAGGAAGGA	ENSP00000430075.2:n.1323+110_1323+111insCGGAAGGAAGGA
NM_000036.2:c.1323+110_1323+111insCGGAAGGAAGGA	NP_000027.2:n.1323+110_1323+111insCGGAAGGAAGGA
NM_001172626.1:c.1311+110_1311+111insCGGAAGGAAGGA	NP_001166097.1:n.1311+110_1311+111insCGGAAGGAAGGA
NM_000036.3:c.1224+110_1224+111insCGGAAGGAAGGA MANE Select	NP_000027.3:n.1224+110_1224+111insCGGAAGGAAGGA
NM_001172626.2:c.1212+110_1212+111insCGGAAGGAAGGA	NP_001166097.2:n.1212+110_1212+111insCGGAAGGAAGGA