Canonical Allele Identifier: CA525630870

Gene: AMPD1

Linked Data

• dbSNP Id: rs1419073775
• gnomAD v2: 1-115220123-CCG-C
• gnomAD v4: 1-114677502-CCG-C
• MyVariant Identifiers: chr1:g.115220124_115220125del (hg19) ; chr1:g.114677503_114677504del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677504_114677505del , CM000663.2:g.114677504_114677505del	GRCh38
NC_000001.10:g.115220125_115220126del , CM000663.1:g.115220125_115220126del	GRCh37
NC_000001.9:g.115021648_115021649del	NCBI36
NG_008012.1:g.23052_23053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1223_1224del	ENSP00000358551.4:p.Ala408GlyfsTer11
ENST00000520113.7:c.1235_1236del MANE Select	ENSP00000430075.3:p.Ala412GlyfsTer11
ENST00000637080.1:c.1018_1019del	ENSP00000489753.1:n.1018_1019del
ENST00000639077.1:n.900_901del
ENST00000369538.3:c.1322_1323del	ENSP00000358551.3:p.Ala441GlyfsTer11
ENST00000520113.6:c.1334_1335del	ENSP00000430075.2:p.Ala445GlyfsTer11
NM_000036.2:c.1334_1335del	NP_000027.2:p.Ala445GlyfsTer11
NM_001172626.1:c.1322_1323del	NP_001166097.1:p.Ala441GlyfsTer11
NM_000036.3:c.1235_1236del MANE Select	NP_000027.3:p.Ala412GlyfsTer11
NM_001172626.2:c.1223_1224del	NP_001166097.2:p.Ala408GlyfsTer11