Canonical Allele Identifier: CA1006000451

Gene: AMPD1

Linked Data

• gnomAD v3: 1-114679621-C-CCGTA
• gnomAD v4: 1-114679621-C-CCGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679621_114679622insCGTA , CM000663.2:g.114679621_114679622insCGTA	GRCh38
NC_000001.10:g.115222242_115222243insCGTA , CM000663.1:g.115222242_115222243insCGTA	GRCh37
NC_000001.9:g.115023765_115023766insCGTA	NCBI36
NG_008012.1:g.20934_20935insTACG

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.842_843insTACG	ENSP00000358551.4:p.Glu281AspfsTer13
ENST00000520113.7:c.854_855insTACG MANE Select	ENSP00000430075.3:p.Glu285AspfsTer13
ENST00000637080.1:c.637_638insTACG	ENSP00000489753.1:n.637_638insTACG
ENST00000639077.1:n.519_520insTACG
ENST00000369538.3:c.941_942insTACG	ENSP00000358551.3:p.Glu314AspfsTer13
ENST00000520113.6:c.953_954insTACG	ENSP00000430075.2:p.Glu318AspfsTer13
NM_000036.2:c.953_954insTACG	NP_000027.2:p.Glu318AspfsTer13
NM_001172626.1:c.941_942insTACG	NP_001166097.1:p.Glu314AspfsTer13
NM_000036.3:c.854_855insTACG MANE Select	NP_000027.3:p.Glu285AspfsTer13
NM_001172626.2:c.842_843insTACG	NP_001166097.2:p.Glu281AspfsTer13