Canonical Allele Identifier: CA525418812

Gene: AMPD1

Linked Data

• dbSNP Id: rs1321686230
• gnomAD v2: 1-115222256-CCATCTCGTTAAG-C
• gnomAD v3: 1-114679635-CCATCTCGTTAAG-C
• gnomAD v4: 1-114679635-CCATCTCGTTAAG-C
• MyVariant Identifiers: chr1:g.115222257_115222268del (hg19) ; chr1:g.114679636_114679647del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679641_114679652del , CM000663.2:g.114679641_114679652del	GRCh38
NC_000001.10:g.115222262_115222273del , CM000663.1:g.115222262_115222273del	GRCh37
NC_000001.9:g.115023785_115023796del	NCBI36
NG_008012.1:g.20909_20920del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.817_828del	ENSP00000358551.4:p.Leu273_Met276del
ENST00000520113.7:c.829_840del MANE Select	ENSP00000430075.3:p.Leu277_Met280del
ENST00000637080.1:c.612_623del	ENSP00000489753.1:n.612_623del
ENST00000639077.1:n.494_505del
ENST00000369538.3:c.916_927del	ENSP00000358551.3:p.Leu306_Met309del
ENST00000520113.6:c.928_939del	ENSP00000430075.2:p.Leu310_Met313del
NM_000036.2:c.928_939del	NP_000027.2:p.Leu310_Met313del
NM_001172626.1:c.916_927del	NP_001166097.1:p.Leu306_Met309del
NM_000036.3:c.829_840del MANE Select	NP_000027.3:p.Leu277_Met280del
NM_001172626.2:c.817_828del	NP_001166097.2:p.Leu273_Met276del