Canonical Allele Identifier: CA2647253774

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684379-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684379_114684380insG , CM000663.2:g.114684379_114684380insG	GRCh38
NC_000001.10:g.115227000_115227001insG , CM000663.1:g.115227000_115227001insG	GRCh37
NC_000001.9:g.115028523_115028524insG	NCBI36
NG_008012.1:g.16176_16177insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-16_370-15insC	ENSP00000358551.4:n.370-16_370-15insC
ENST00000520113.7:c.382-16_382-15insC MANE Select	ENSP00000430075.3:n.382-16_382-15insC
ENST00000637080.1:c.385-16_385-15insC	ENSP00000489753.1:n.385-16_385-15insC
ENST00000639077.1:n.47-16_47-15insC
ENST00000369538.3:c.469-16_469-15insC	ENSP00000358551.3:n.469-16_469-15insC
ENST00000485564.3:n.256-16_256-15insC
ENST00000520113.6:c.481-16_481-15insC	ENSP00000430075.2:n.481-16_481-15insC
NM_000036.2:c.481-16_481-15insC	NP_000027.2:n.481-16_481-15insC
NM_001172626.1:c.469-16_469-15insC	NP_001166097.1:n.469-16_469-15insC
NM_000036.3:c.382-16_382-15insC MANE Select	NP_000027.3:n.382-16_382-15insC
NM_001172626.2:c.370-16_370-15insC	NP_001166097.2:n.370-16_370-15insC