Canonical Allele Identifier: CA1006000417

Gene: AMPD1

Linked Data

• gnomAD v3: 1-114679606-GGGGTTGTTTT-G
• gnomAD v4: 1-114679606-GGGGTTGTTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679607_114679616del , CM000663.2:g.114679607_114679616del	GRCh38
NC_000001.10:g.115222228_115222237del , CM000663.1:g.115222228_115222237del	GRCh37
NC_000001.9:g.115023751_115023760del	NCBI36
NG_008012.1:g.20940_20949del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.848_857del	ENSP00000358551.4:p.Lys283ThrfsTer21
ENST00000520113.7:c.860_869del MANE Select	ENSP00000430075.3:p.Lys287ThrfsTer21
ENST00000637080.1:c.643_652del	ENSP00000489753.1:n.643_652del
ENST00000639077.1:n.525_534del
ENST00000369538.3:c.947_956del	ENSP00000358551.3:p.Lys316ThrfsTer21
ENST00000520113.6:c.959_968del	ENSP00000430075.2:p.Lys320ThrfsTer21
NM_000036.2:c.959_968del	NP_000027.2:p.Lys320ThrfsTer21
NM_001172626.1:c.947_956del	NP_001166097.1:p.Lys316ThrfsTer21
NM_000036.3:c.860_869del MANE Select	NP_000027.3:p.Lys287ThrfsTer21
NM_001172626.2:c.848_857del	NP_001166097.2:p.Lys283ThrfsTer21