Canonical Allele Identifier: CA2745133632

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677813_114677814insGTTC , CM000663.2:g.114677813_114677814insGTTC	GRCh38
NC_000001.10:g.115220434_115220435insGTTC , CM000663.1:g.115220434_115220435insGTTC	GRCh37
NC_000001.9:g.115021957_115021958insGTTC	NCBI36
NG_008012.1:g.22745_22746insCGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+99_1212+100insCGAA	ENSP00000358551.4:n.1212+99_1212+100insCGAA
ENST00000520113.7:c.1224+99_1224+100insCGAA MANE Select	ENSP00000430075.3:n.1224+99_1224+100insCGAA
ENST00000637080.1:c.1007+99_1007+100insCGAA	ENSP00000489753.1:n.1007+99_1007+100insCGAA
ENST00000639077.1:n.889+99_889+100insCGAA
ENST00000369538.3:c.1311+99_1311+100insCGAA	ENSP00000358551.3:n.1311+99_1311+100insCGAA
ENST00000520113.6:c.1323+99_1323+100insCGAA	ENSP00000430075.2:n.1323+99_1323+100insCGAA
NM_000036.2:c.1323+99_1323+100insCGAA	NP_000027.2:n.1323+99_1323+100insCGAA
NM_001172626.1:c.1311+99_1311+100insCGAA	NP_001166097.1:n.1311+99_1311+100insCGAA
NM_000036.3:c.1224+99_1224+100insCGAA MANE Select	NP_000027.3:n.1224+99_1224+100insCGAA
NM_001172626.2:c.1212+99_1212+100insCGAA	NP_001166097.2:n.1212+99_1212+100insCGAA