Canonical Allele Identifier: CA2580060835

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 2018351
• ClinVar RCV Id: RCV002861955

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677960_114677979del , CM000663.2:g.114677960_114677979del	GRCh38
NC_000001.10:g.115220581_115220600del , CM000663.1:g.115220581_115220600del	GRCh37
NC_000001.9:g.115022104_115022123del	NCBI36
NG_008012.1:g.22580_22599del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1146_1165del	ENSP00000358551.4:p.Leu383AspfsTer6
ENST00000520113.7:c.1158_1177del MANE Select	ENSP00000430075.3:p.Leu387AspfsTer6
ENST00000637080.1:c.941_960del	ENSP00000489753.1:n.941_960del
ENST00000639077.1:n.823_842del
ENST00000369538.3:c.1245_1264del	ENSP00000358551.3:p.Leu416AspfsTer6
ENST00000520113.6:c.1257_1276del	ENSP00000430075.2:p.Leu420AspfsTer6
NM_000036.2:c.1257_1276del	NP_000027.2:p.Leu420AspfsTer6
NM_001172626.1:c.1245_1264del	NP_001166097.1:p.Leu416AspfsTer6
NM_000036.3:c.1158_1177del MANE Select	NP_000027.3:p.Leu387AspfsTer6
NM_001172626.2:c.1146_1165del	NP_001166097.2:p.Leu383AspfsTer6