Canonical Allele Identifier: CA1190276461
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677792_114677799delinsTCTCTCCC , CM000663.2:g.114677792_114677799delinsTCTCTCCC GRCh38
NC_000001.10:g.115220413_115220420delinsTCTCTCCC , CM000663.1:g.115220413_115220420delinsTCTCTCCC GRCh37
NC_000001.9:g.115021936_115021943delinsTCTCTCCC NCBI36
NG_008012.1:g.22757_22764delinsGGGAGAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1212+111_1212+118delinsGGGAGAGA ENSP00000358551.4:n.1212+111_1212+118deli...
ENST00000520113.7:c.1224+111_1224+118delinsGGGAGAGA MANE Select ENSP00000430075.3:n.1224+111_1224+118deli...
ENST00000637080.1:c.1007+111_1007+118delinsGGGAGAGA ENSP00000489753.1:n.1007+111_1007+118deli...
ENST00000639077.1:n.889+111_889+118delinsGGGAGAGA
ENST00000369538.3:c.1311+111_1311+118delinsGGGAGAGA ENSP00000358551.3:n.1311+111_1311+118deli...
ENST00000520113.6:c.1323+111_1323+118delinsGGGAGAGA ENSP00000430075.2:n.1323+111_1323+118deli...
NM_000036.2:c.1323+111_1323+118delinsGGGAGAGA NP_000027.2:n.1323+111_1323+118delinsGGGA...
NM_001172626.1:c.1311+111_1311+118delinsGGGAGAGA NP_001166097.1:n.1311+111_1311+118delinsG...
NM_000036.3:c.1224+111_1224+118delinsGGGAGAGA MANE Select NP_000027.3:n.1224+111_1224+118delinsGGGA...
NM_001172626.2:c.1212+111_1212+118delinsGGGAGAGA NP_001166097.2:n.1212+111_1212+118delinsG...