Canonical Allele Identifier: CA2697554463

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 2747894
• ClinVar RCV Id: RCV003516855

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684183del , CM000663.2:g.114684183del	GRCh38
NC_000001.10:g.115226804del , CM000663.1:g.115226804del	GRCh37
NC_000001.9:g.115028327del	NCBI36
NG_008012.1:g.16373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.535+16del	ENSP00000358551.4:n.535+16del
ENST00000520113.7:c.547+16del MANE Select	ENSP00000430075.3:n.547+16del
ENST00000637080.1:c.550+16del	ENSP00000489753.1:n.550+16del
ENST00000639077.1:n.212+16del
ENST00000369538.3:c.634+16del	ENSP00000358551.3:n.634+16del
ENST00000485564.3:n.421+16del
ENST00000520113.6:c.646+16del	ENSP00000430075.2:n.646+16del
NM_000036.2:c.646+16del	NP_000027.2:n.646+16del
NM_001172626.1:c.634+16del	NP_001166097.1:n.634+16del
NM_000036.3:c.547+16del MANE Select	NP_000027.3:n.547+16del
NM_001172626.2:c.535+16del	NP_001166097.2:n.535+16del