Canonical Allele Identifier: CA2647248015

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677831-T-TTCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677834_114677835insGTCC , CM000663.2:g.114677834_114677835insGTCC	GRCh38
NC_000001.10:g.115220455_115220456insGTCC , CM000663.1:g.115220455_115220456insGTCC	GRCh37
NC_000001.9:g.115021978_115021979insGTCC	NCBI36
NG_008012.1:g.22724_22725insCGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+78_1212+79insCGGA	ENSP00000358551.4:n.1212+78_1212+79insCGGA
ENST00000520113.7:c.1224+78_1224+79insCGGA MANE Select	ENSP00000430075.3:n.1224+78_1224+79insCGGA
ENST00000637080.1:c.1007+78_1007+79insCGGA	ENSP00000489753.1:n.1007+78_1007+79insCGGA
ENST00000639077.1:n.889+78_889+79insCGGA
ENST00000369538.3:c.1311+78_1311+79insCGGA	ENSP00000358551.3:n.1311+78_1311+79insCGGA
ENST00000520113.6:c.1323+78_1323+79insCGGA	ENSP00000430075.2:n.1323+78_1323+79insCGGA
NM_000036.2:c.1323+78_1323+79insCGGA	NP_000027.2:n.1323+78_1323+79insCGGA
NM_001172626.1:c.1311+78_1311+79insCGGA	NP_001166097.1:n.1311+78_1311+79insCGGA
NM_000036.3:c.1224+78_1224+79insCGGA MANE Select	NP_000027.3:n.1224+78_1224+79insCGGA
NM_001172626.2:c.1212+78_1212+79insCGGA	NP_001166097.2:n.1212+78_1212+79insCGGA