Canonical Allele Identifier: CA2647248297

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677935-C-CACTATTTTCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677935_114677936insACTATTTTCCCA , CM000663.2:g.114677935_114677936insACTATTTTCCCA	GRCh38
NC_000001.10:g.115220556_115220557insACTATTTTCCCA , CM000663.1:g.115220556_115220557insACTATTTTCCCA	GRCh37
NC_000001.9:g.115022079_115022080insACTATTTTCCCA	NCBI36
NG_008012.1:g.22620_22621insTGGGAAAATAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1186_1187insTGGGAAAATAGT	ENSP00000358551.4:p.Gly396ValfsTer4
ENST00000520113.7:c.1198_1199insTGGGAAAATAGT MANE Select	ENSP00000430075.3:p.Gly400ValfsTer4
ENST00000637080.1:c.981_982insTGGGAAAATAGT	ENSP00000489753.1:n.981_982insTGGGAAAATAGT
ENST00000639077.1:n.863_864insTGGGAAAATAGT
ENST00000369538.3:c.1285_1286insTGGGAAAATAGT	ENSP00000358551.3:p.Gly429ValfsTer4
ENST00000520113.6:c.1297_1298insTGGGAAAATAGT	ENSP00000430075.2:p.Gly433ValfsTer4
NM_000036.2:c.1297_1298insTGGGAAAATAGT	NP_000027.2:p.Gly433ValfsTer4
NM_001172626.1:c.1285_1286insTGGGAAAATAGT	NP_001166097.1:p.Gly429ValfsTer4
NM_000036.3:c.1198_1199insTGGGAAAATAGT MANE Select	NP_000027.3:p.Gly400ValfsTer4
NM_001172626.2:c.1186_1187insTGGGAAAATAGT	NP_001166097.2:p.Gly396ValfsTer4