Canonical Allele Identifier: CA29054937
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs34245099

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677799_114677802del , CM000663.2:g.114677799_114677802del GRCh38
NC_000001.10:g.115220420_115220423del , CM000663.1:g.115220420_115220423del GRCh37
NC_000001.9:g.115021943_115021946del NCBI36
NG_008012.1:g.22758_22761del

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1212+112_1212+115del ENSP00000358551.4:n.1212+112_1212+115del
ENST00000520113.7:c.1224+112_1224+115del MANE Select ENSP00000430075.3:n.1224+112_1224+115del
ENST00000637080.1:c.1007+112_1007+115del ENSP00000489753.1:n.1007+112_1007+115del
ENST00000639077.1:n.889+112_889+115del
ENST00000369538.3:c.1311+112_1311+115del ENSP00000358551.3:n.1311+112_1311+115del
ENST00000520113.6:c.1323+112_1323+115del ENSP00000430075.2:n.1323+112_1323+115del
NM_000036.2:c.1323+112_1323+115del NP_000027.2:n.1323+112_1323+115del
NM_001172626.1:c.1311+112_1311+115del NP_001166097.1:n.1311+112_1311+115del
NM_000036.3:c.1224+112_1224+115del MANE Select NP_000027.3:n.1224+112_1224+115del
NM_001172626.2:c.1212+112_1212+115del NP_001166097.2:n.1212+112_1212+115del