Canonical Allele Identifier: CA2525137659

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677439_114677440insTATGCCGATTTTCA , CM000663.2:g.114677439_114677440insTATGCCGATTTTCA	GRCh38
NC_000001.10:g.115220060_115220061insTATGCCGATTTTCA , CM000663.1:g.115220060_115220061insTATGCCGATTTTCA	GRCh37
NC_000001.9:g.115021583_115021584insTATGCCGATTTTCA	NCBI36
NG_008012.1:g.23116_23117insTGAAAATCGGCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1287_1288insTGAAAATCGGCATA	ENSP00000358551.4:p.Asp430Ter
ENST00000520113.7:c.1299_1300insTGAAAATCGGCATA MANE Select	ENSP00000430075.3:p.Asp434Ter
ENST00000637080.1:c.1082_1083insTGAAAATCGGCATA	ENSP00000489753.1:n.1082_1083insTGAAAATCGGCATA
ENST00000639077.1:n.964_965insTGAAAATCGGCATA
ENST00000369538.3:c.1386_1387insTGAAAATCGGCATA	ENSP00000358551.3:p.Asp463Ter
ENST00000520113.6:c.1398_1399insTGAAAATCGGCATA	ENSP00000430075.2:p.Asp467Ter
NM_000036.2:c.1398_1399insTGAAAATCGGCATA	NP_000027.2:p.Asp467Ter
NM_001172626.1:c.1386_1387insTGAAAATCGGCATA	NP_001166097.1:p.Asp463Ter
NM_000036.3:c.1299_1300insTGAAAATCGGCATA MANE Select	NP_000027.3:p.Asp434Ter
NM_001172626.2:c.1287_1288insTGAAAATCGGCATA	NP_001166097.2:p.Asp430Ter