Canonical Allele Identifier: CA1190276449
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677783_114677795delinsTTCTTTCCCTCTC , CM000663.2:g.114677783_114677795delinsTTCTTTCCCTCTC GRCh38
NC_000001.10:g.115220404_115220416delinsTTCTTTCCCTCTC , CM000663.1:g.115220404_115220416delinsTTCTTTCCCTCTC GRCh37
NC_000001.9:g.115021927_115021939delinsTTCTTTCCCTCTC NCBI36
NG_008012.1:g.22761_22773delinsGAGAGGGAAAGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1212+115_1212+127delinsGAGAGGGAAAGAA ENSP00000358551.4:n.1212+115_1212+127deli...
ENST00000520113.7:c.1224+115_1224+127delinsGAGAGGGAAAGAA MANE Select ENSP00000430075.3:n.1224+115_1224+127deli...
ENST00000637080.1:c.1007+115_1007+127delinsGAGAGGGAAAGAA ENSP00000489753.1:n.1007+115_1007+127deli...
ENST00000639077.1:n.889+115_889+127delinsGAGAGGGAAAGAA
ENST00000369538.3:c.1311+115_1311+127delinsGAGAGGGAAAGAA ENSP00000358551.3:n.1311+115_1311+127deli...
ENST00000520113.6:c.1323+115_1323+127delinsGAGAGGGAAAGAA ENSP00000430075.2:n.1323+115_1323+127deli...
NM_000036.2:c.1323+115_1323+127delinsGAGAGGGAAAGAA NP_000027.2:n.1323+115_1323+127delinsGAGA...
NM_001172626.1:c.1311+115_1311+127delinsGAGAGGGAAAGAA NP_001166097.1:n.1311+115_1311+127delinsG...
NM_000036.3:c.1224+115_1224+127delinsGAGAGGGAAAGAA MANE Select NP_000027.3:n.1224+115_1224+127delinsGAGA...
NM_001172626.2:c.1212+115_1212+127delinsGAGAGGGAAAGAA NP_001166097.2:n.1212+115_1212+127delinsG...