Canonical Allele Identifier: CA525418376

Gene: AMPD1

Linked Data

• dbSNP Id: rs1557969450
• gnomAD v2: 1-115220393-CCCT-C
• gnomAD v3: 1-114677772-CCCT-C
• gnomAD v4: 1-114677772-CCCT-C
• MyVariant Identifiers: chr1:g.115220394_115220396del (hg19) ; chr1:g.114677773_114677775del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677773_114677775del , CM000663.2:g.114677773_114677775del	GRCh38
NC_000001.10:g.115220394_115220396del , CM000663.1:g.115220394_115220396del	GRCh37
NC_000001.9:g.115021917_115021919del	NCBI36
NG_008012.1:g.22781_22783del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+135_1212+137del	ENSP00000358551.4:n.1212+135_1212+137del
ENST00000520113.7:c.1224+135_1224+137del MANE Select	ENSP00000430075.3:n.1224+135_1224+137del
ENST00000637080.1:c.1007+135_1007+137del	ENSP00000489753.1:n.1007+135_1007+137del
ENST00000639077.1:n.889+135_889+137del
ENST00000369538.3:c.1311+135_1311+137del	ENSP00000358551.3:n.1311+135_1311+137del
ENST00000520113.6:c.1323+135_1323+137del	ENSP00000430075.2:n.1323+135_1323+137del
NM_000036.2:c.1323+135_1323+137del	NP_000027.2:n.1323+135_1323+137del
NM_001172626.1:c.1311+135_1311+137del	NP_001166097.1:n.1311+135_1311+137del
NM_000036.3:c.1224+135_1224+137del MANE Select	NP_000027.3:n.1224+135_1224+137del
NM_001172626.2:c.1212+135_1212+137del	NP_001166097.2:n.1212+135_1212+137del