Canonical Allele Identifier: CA885821041

Gene: AMPD1

Linked Data

• dbSNP Id: rs1311758147
• gnomAD v3: 1-114693382-A-AT
• gnomAD v4: 1-114693382-A-AT
• MyVariant Identifiers: chr1:g.115236003_115236004insT (hg19) ; chr1:g.114693382_114693383insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114693389dup , CM000663.2:g.114693389dup	GRCh38
NC_000001.10:g.115236010dup , CM000663.1:g.115236010dup	GRCh37
NC_000001.9:g.115037533dup	NCBI36
NG_008012.1:g.7173dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.22+2067dup	ENSP00000358551.4:n.22+2067dup
ENST00000520113.7:c.34+53dup MANE Select	ENSP00000430075.3:n.34+53dup
ENST00000637080.1:c.37+2054dup	ENSP00000489753.1:n.37+2054dup
ENST00000369538.3:c.121+2067dup	ENSP00000358551.3:n.121+2067dup
ENST00000520113.6:c.133+53dup	ENSP00000430075.2:n.133+53dup
NM_000036.2:c.133+53dup	NP_000027.2:n.133+53dup
NM_001172626.1:c.121+2067dup	NP_001166097.1:n.121+2067dup
NM_000036.3:c.34+53dup MANE Select	NP_000027.3:n.34+53dup
NM_001172626.2:c.22+2067dup	NP_001166097.2:n.22+2067dup