Canonical Allele Identifier: CA2647248020

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677835-T-TTCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677838_114677839insGTCC , CM000663.2:g.114677838_114677839insGTCC	GRCh38
NC_000001.10:g.115220459_115220460insGTCC , CM000663.1:g.115220459_115220460insGTCC	GRCh37
NC_000001.9:g.115021982_115021983insGTCC	NCBI36
NG_008012.1:g.22720_22721insCGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+74_1212+75insCGGA	ENSP00000358551.4:n.1212+74_1212+75insCGGA
ENST00000520113.7:c.1224+74_1224+75insCGGA MANE Select	ENSP00000430075.3:n.1224+74_1224+75insCGGA
ENST00000637080.1:c.1007+74_1007+75insCGGA	ENSP00000489753.1:n.1007+74_1007+75insCGGA
ENST00000639077.1:n.889+74_889+75insCGGA
ENST00000369538.3:c.1311+74_1311+75insCGGA	ENSP00000358551.3:n.1311+74_1311+75insCGGA
ENST00000520113.6:c.1323+74_1323+75insCGGA	ENSP00000430075.2:n.1323+74_1323+75insCGGA
NM_000036.2:c.1323+74_1323+75insCGGA	NP_000027.2:n.1323+74_1323+75insCGGA
NM_001172626.1:c.1311+74_1311+75insCGGA	NP_001166097.1:n.1311+74_1311+75insCGGA
NM_000036.3:c.1224+74_1224+75insCGGA MANE Select	NP_000027.3:n.1224+74_1224+75insCGGA
NM_001172626.2:c.1212+74_1212+75insCGGA	NP_001166097.2:n.1212+74_1212+75insCGGA