Canonical Allele Identifier: CA2647247436

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677759-T-TGGCGGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677759_114677760insGGCGGCCG , CM000663.2:g.114677759_114677760insGGCGGCCG	GRCh38
NC_000001.10:g.115220380_115220381insGGCGGCCG , CM000663.1:g.115220380_115220381insGGCGGCCG	GRCh37
NC_000001.9:g.115021903_115021904insGGCGGCCG	NCBI36
NG_008012.1:g.22796_22797insCGGCCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+150_1212+151insCGGCCGCC	ENSP00000358551.4:n.1212+150_1212+151insCGGCCGCC
ENST00000520113.7:c.1224+150_1224+151insCGGCCGCC MANE Select	ENSP00000430075.3:n.1224+150_1224+151insCGGCCGCC
ENST00000637080.1:c.1007+150_1007+151insCGGCCGCC	ENSP00000489753.1:n.1007+150_1007+151insCGGCCGCC
ENST00000639077.1:n.889+150_889+151insCGGCCGCC
ENST00000369538.3:c.1311+150_1311+151insCGGCCGCC	ENSP00000358551.3:n.1311+150_1311+151insCGGCCGCC
ENST00000520113.6:c.1323+150_1323+151insCGGCCGCC	ENSP00000430075.2:n.1323+150_1323+151insCGGCCGCC
NM_000036.2:c.1323+150_1323+151insCGGCCGCC	NP_000027.2:n.1323+150_1323+151insCGGCCGCC
NM_001172626.1:c.1311+150_1311+151insCGGCCGCC	NP_001166097.1:n.1311+150_1311+151insCGGCCGCC
NM_000036.3:c.1224+150_1224+151insCGGCCGCC MANE Select	NP_000027.3:n.1224+150_1224+151insCGGCCGCC
NM_001172626.2:c.1212+150_1212+151insCGGCCGCC	NP_001166097.2:n.1212+150_1212+151insCGGCCGCC