Canonical Allele Identifier: CA525418509

Gene: AMPD1

Linked Data

• dbSNP Id: rs1319082211
• gnomAD v2: 1-115220620-ATT-A
• gnomAD v4: 1-114677999-ATT-A
• MyVariant Identifiers: chr1:g.115220621_115220622del (hg19) ; chr1:g.114678000_114678001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114678001_114678002del , CM000663.2:g.114678001_114678002del	GRCh38
NC_000001.10:g.115220622_115220623del , CM000663.1:g.115220622_115220623del	GRCh37
NC_000001.9:g.115022145_115022146del	NCBI36
NG_008012.1:g.22555_22556del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1121_1122del	ENSP00000358551.4:p.Lys374IlefsTer2
ENST00000520113.7:c.1133_1134del MANE Select	ENSP00000430075.3:p.Lys378IlefsTer2
ENST00000637080.1:c.916_917del	ENSP00000489753.1:n.916_917del
ENST00000639077.1:n.798_799del
ENST00000369538.3:c.1220_1221del	ENSP00000358551.3:p.Lys407IlefsTer2
ENST00000520113.6:c.1232_1233del	ENSP00000430075.2:p.Lys411IlefsTer2
NM_000036.2:c.1232_1233del	NP_000027.2:p.Lys411IlefsTer2
NM_001172626.1:c.1220_1221del	NP_001166097.1:p.Lys407IlefsTer2
NM_000036.3:c.1133_1134del MANE Select	NP_000027.3:p.Lys378IlefsTer2
NM_001172626.2:c.1121_1122del	NP_001166097.2:p.Lys374IlefsTer2