Canonical Allele Identifier: CA1006000443

Gene: AMPD1

Linked Data

• gnomAD v3: 1-114679618-CA-C
• gnomAD v4: 1-114679618-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679619del , CM000663.2:g.114679619del	GRCh38
NC_000001.10:g.115222240del , CM000663.1:g.115222240del	GRCh37
NC_000001.9:g.115023763del	NCBI36
NG_008012.1:g.20937del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.845del	ENSP00000358551.4:p.Leu282ArgfsTer25
ENST00000520113.7:c.857del MANE Select	ENSP00000430075.3:p.Leu286ArgfsTer25
ENST00000637080.1:c.640del	ENSP00000489753.1:n.640del
ENST00000639077.1:n.522del
ENST00000369538.3:c.944del	ENSP00000358551.3:p.Leu315ArgfsTer25
ENST00000520113.6:c.956del	ENSP00000430075.2:p.Leu319ArgfsTer25
NM_000036.2:c.956del	NP_000027.2:p.Leu319ArgfsTer25
NM_001172626.1:c.944del	NP_001166097.1:p.Leu315ArgfsTer25
NM_000036.3:c.857del MANE Select	NP_000027.3:p.Leu286ArgfsTer25
NM_001172626.2:c.845del	NP_001166097.2:p.Leu282ArgfsTer25