Canonical Allele Identifier: CA2745133619

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677778_114677779insAGGTGAAAGAAAATGTATACCAAACTGTACATAGTTCTTATTCTATCTTAGT , CM000663.2:g.114677778_114677779insAGGTGAAAGAAAATGTATACCAAACTGTACATAGTTCTTATTCTATCTTAGT	GRCh38
NC_000001.10:g.115220399_115220400insAGGTGAAAGAAAATGTATACCAAACTGTACATAGTTCTTATTCTATCTTAGT , CM000663.1:g.115220399_115220400insAGGTGAAAGAAAATGTATACCAAACTGTACATAGTTCTTATTCTATCTTAGT	GRCh37
NC_000001.9:g.115021922_115021923insAGGTGAAAGAAAATGTATACCAAACTGTACATAGTTCTTATTCTATCTTAGT	NCBI36
NG_008012.1:g.22777_22778insACTAAGATAGAATAAGAACTATGTACAGTTTGGTATACATTTTCTTTCACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+131_1212+132insACTAAGATAGAATAAGAACTATGTACAGTTTGGTATACATTTTCTTTCACCT	ENSP00000358551.4:n.1212+131_1212+132insACTAAGATAGAATAAGAACTA...
ENST00000520113.7:c.1224+131_1224+132insACTAAGATAGAATAAGAACTATGTACAGTTTGGTATACATTTTCTTTCACCT MANE Select	ENSP00000430075.3:n.1224+131_1224+132insACTAAGATAGAATAAGAACTA...
ENST00000637080.1:c.1007+131_1007+132insACTAAGATAGAATAAGAACTATGTACAGTTTGGTATACATTTTCTTTCACCT	ENSP00000489753.1:n.1007+131_1007+132insACTAAGATAGAATAAGAACTA...
ENST00000639077.1:n.889+131_889+132insACTAAGATAGAATAAGAACTATGTACAGTTTGGTATACATTTTCTTTCACCT
ENST00000369538.3:c.1311+131_1311+132insACTAAGATAGAATAAGAACTATGTACAGTTTGGTATACATTTTCTTTCACCT	ENSP00000358551.3:n.1311+131_1311+132insACTAAGATAGAATAAGAACTA...
ENST00000520113.6:c.1323+131_1323+132insACTAAGATAGAATAAGAACTATGTACAGTTTGGTATACATTTTCTTTCACCT	ENSP00000430075.2:n.1323+131_1323+132insACTAAGATAGAATAAGAACTA...
NM_000036.2:c.1323+131_1323+132insACTAAGATAGAATAAGAACTATGTACAGTTTGGTATACATTTTCTTTCACCT	NP_000027.2:n.1323+131_1323+132insACTAAGATAGAATAAGAACTATGTACA...
NM_001172626.1:c.1311+131_1311+132insACTAAGATAGAATAAGAACTATGTACAGTTTGGTATACATTTTCTTTCACCT	NP_001166097.1:n.1311+131_1311+132insACTAAGATAGAATAAGAACTATGT...
NM_000036.3:c.1224+131_1224+132insACTAAGATAGAATAAGAACTATGTACAGTTTGGTATACATTTTCTTTCACCT MANE Select	NP_000027.3:n.1224+131_1224+132insACTAAGATAGAATAAGAACTATGTACA...
NM_001172626.2:c.1212+131_1212+132insACTAAGATAGAATAAGAACTATGTACAGTTTGGTATACATTTTCTTTCACCT	NP_001166097.2:n.1212+131_1212+132insACTAAGATAGAATAAGAACTATGT...