Canonical Allele Identifier: CA2568760861

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677774-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677775_114677776del , CM000663.2:g.114677775_114677776del	GRCh38
NC_000001.10:g.115220396_115220397del , CM000663.1:g.115220396_115220397del	GRCh37
NC_000001.9:g.115021919_115021920del	NCBI36
NG_008012.1:g.22780_22781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+134_1212+135del	ENSP00000358551.4:n.1212+134_1212+135del
ENST00000520113.7:c.1224+134_1224+135del MANE Select	ENSP00000430075.3:n.1224+134_1224+135del
ENST00000637080.1:c.1007+134_1007+135del	ENSP00000489753.1:n.1007+134_1007+135del
ENST00000639077.1:n.889+134_889+135del
ENST00000369538.3:c.1311+134_1311+135del	ENSP00000358551.3:n.1311+134_1311+135del
ENST00000520113.6:c.1323+134_1323+135del	ENSP00000430075.2:n.1323+134_1323+135del
NM_000036.2:c.1323+134_1323+135del	NP_000027.2:n.1323+134_1323+135del
NM_001172626.1:c.1311+134_1311+135del	NP_001166097.1:n.1311+134_1311+135del
NM_000036.3:c.1224+134_1224+135del MANE Select	NP_000027.3:n.1224+134_1224+135del
NM_001172626.2:c.1212+134_1212+135del	NP_001166097.2:n.1212+134_1212+135del