Canonical Allele Identifier: CA1190276377

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658028225
• gnomAD v4: 1-114677631-TAATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677636_114677639del , CM000663.2:g.114677636_114677639del	GRCh38
NC_000001.10:g.115220257_115220260del , CM000663.1:g.115220257_115220260del	GRCh37
NC_000001.9:g.115021780_115021783del	NCBI36
NG_008012.1:g.22921_22924del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1213-121_1213-118del	ENSP00000358551.4:n.1213-121_1213-118del
ENST00000520113.7:c.1225-121_1225-118del MANE Select	ENSP00000430075.3:n.1225-121_1225-118del
ENST00000637080.1:c.1008-121_1008-118del	ENSP00000489753.1:n.1008-121_1008-118del
ENST00000639077.1:n.890-121_890-118del
ENST00000369538.3:c.1312-121_1312-118del	ENSP00000358551.3:n.1312-121_1312-118del
ENST00000520113.6:c.1324-121_1324-118del	ENSP00000430075.2:n.1324-121_1324-118del
NM_000036.2:c.1324-121_1324-118del	NP_000027.2:n.1324-121_1324-118del
NM_001172626.1:c.1312-121_1312-118del	NP_001166097.1:n.1312-121_1312-118del
NM_000036.3:c.1225-121_1225-118del MANE Select	NP_000027.3:n.1225-121_1225-118del
NM_001172626.2:c.1213-121_1213-118del	NP_001166097.2:n.1213-121_1213-118del