Canonical Allele Identifier: CA2647253066

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684107-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684109del , CM000663.2:g.114684109del	GRCh38
NC_000001.10:g.115226730del , CM000663.1:g.115226730del	GRCh37
NC_000001.9:g.115028253del	NCBI36
NG_008012.1:g.16448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.535+91del	ENSP00000358551.4:n.535+91del
ENST00000520113.7:c.547+91del MANE Select	ENSP00000430075.3:n.547+91del
ENST00000637080.1:c.550+91del	ENSP00000489753.1:n.550+91del
ENST00000639077.1:n.212+91del
ENST00000369538.3:c.634+91del	ENSP00000358551.3:n.634+91del
ENST00000485564.3:n.421+91del
ENST00000520113.6:c.646+91del	ENSP00000430075.2:n.646+91del
NM_000036.2:c.646+91del	NP_000027.2:n.646+91del
NM_001172626.1:c.634+91del	NP_001166097.1:n.634+91del
NM_000036.3:c.547+91del MANE Select	NP_000027.3:n.547+91del
NM_001172626.2:c.535+91del	NP_001166097.2:n.535+91del