Canonical Allele Identifier: CA1006003406

Gene: AMPD1

Linked Data

• dbSNP Id: rs727503806
• gnomAD v3: 1-114684369-CAAAA-C
• gnomAD v4: 1-114684369-CAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684378_114684381del , CM000663.2:g.114684378_114684381del	GRCh38
NC_000001.10:g.115226999_115227002del , CM000663.1:g.115226999_115227002del	GRCh37
NC_000001.9:g.115028522_115028525del	NCBI36
NG_008012.1:g.16183_16186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-9_370-6del	ENSP00000358551.4:n.370-9_370-6del
ENST00000520113.7:c.382-9_382-6del MANE Select	ENSP00000430075.3:n.382-9_382-6del
ENST00000637080.1:c.385-9_385-6del	ENSP00000489753.1:n.385-9_385-6del
ENST00000639077.1:n.47-9_47-6del
ENST00000369538.3:c.469-9_469-6del	ENSP00000358551.3:n.469-9_469-6del
ENST00000485564.3:n.256-9_256-6del
ENST00000520113.6:c.481-9_481-6del	ENSP00000430075.2:n.481-9_481-6del
NM_000036.2:c.481-9_481-6del	NP_000027.2:n.481-9_481-6del
NM_001172626.1:c.469-9_469-6del	NP_001166097.1:n.469-9_469-6del
NM_000036.3:c.382-9_382-6del MANE Select	NP_000027.3:n.382-9_382-6del
NM_001172626.2:c.370-9_370-6del	NP_001166097.2:n.370-9_370-6del