Canonical Allele Identifier: CA1020156

Gene: AMPD1

Linked Data

• dbSNP Id: rs768284146
• ExAC: 1:115220035 CAGG / C
• gnomAD v2: 1-115220035-CAGG-C
• gnomAD v4: 1-114677414-CAGG-C
• MyVariant Identifiers: chr1:g.115220036_115220038del (hg19) ; chr1:g.114677415_114677417del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677420_114677422del , CM000663.2:g.114677420_114677422del	GRCh38
NC_000001.10:g.115220041_115220043del , CM000663.1:g.115220041_115220043del	GRCh37
NC_000001.9:g.115021564_115021566del	NCBI36
NG_008012.1:g.23139_23141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1310_1312del	ENSP00000358551.4:p.Ser437del
ENST00000520113.7:c.1322_1324del MANE Select	ENSP00000430075.3:p.Ser441del
ENST00000637080.1:c.1105_1107del	ENSP00000489753.1:n.1105_1107del
ENST00000639077.1:n.987_989del
ENST00000369538.3:c.1409_1411del	ENSP00000358551.3:p.Ser470del
ENST00000520113.6:c.1421_1423del	ENSP00000430075.2:p.Ser474del
NM_000036.2:c.1421_1423del	NP_000027.2:p.Ser474del
NM_001172626.1:c.1409_1411del	NP_001166097.1:p.Ser470del
NM_000036.3:c.1322_1324del MANE Select	NP_000027.3:p.Ser441del
NM_001172626.2:c.1310_1312del	NP_001166097.2:p.Ser437del