Canonical Allele Identifier: CA2647256295

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114693433-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114693434_114693435insAA , CM000663.2:g.114693434_114693435insAA	GRCh38
NC_000001.10:g.115236055_115236056insAA , CM000663.1:g.115236055_115236056insAA	GRCh37
NC_000001.9:g.115037578_115037579insAA	NCBI36
NG_008012.1:g.7122_7123insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.22+2016_22+2017insTT	ENSP00000358551.4:n.22+2016_22+2017insTT
ENST00000520113.7:c.34+2_34+3insTT MANE Select	ENSP00000430075.3:n.34+2_34+3insTT
ENST00000637080.1:c.37+2003_37+2004insTT	ENSP00000489753.1:n.37+2003_37+2004insTT
ENST00000369538.3:c.121+2016_121+2017insTT	ENSP00000358551.3:n.121+2016_121+2017insTT
ENST00000520113.6:c.133+2_133+3insTT	ENSP00000430075.2:n.133+2_133+3insTT
NM_000036.2:c.133+2_133+3insTT	NP_000027.2:n.133+2_133+3insTT
NM_001172626.1:c.121+2016_121+2017insTT	NP_001166097.1:n.121+2016_121+2017insTT
NM_000036.3:c.34+2_34+3insTT MANE Select	NP_000027.3:n.34+2_34+3insTT
NM_001172626.2:c.22+2016_22+2017insTT	NP_001166097.2:n.22+2016_22+2017insTT