Canonical Allele Identifier: CA2647247677

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677818-C-CTTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677820_114677824dup , CM000663.2:g.114677820_114677824dup	GRCh38
NC_000001.10:g.115220441_115220445dup , CM000663.1:g.115220441_115220445dup	GRCh37
NC_000001.9:g.115021964_115021968dup	NCBI36
NG_008012.1:g.22733_22737dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+87_1212+91dup	ENSP00000358551.4:n.1212+87_1212+91dup
ENST00000520113.7:c.1224+87_1224+91dup MANE Select	ENSP00000430075.3:n.1224+87_1224+91dup
ENST00000637080.1:c.1007+87_1007+91dup	ENSP00000489753.1:n.1007+87_1007+91dup
ENST00000639077.1:n.889+87_889+91dup
ENST00000369538.3:c.1311+87_1311+91dup	ENSP00000358551.3:n.1311+87_1311+91dup
ENST00000520113.6:c.1323+87_1323+91dup	ENSP00000430075.2:n.1323+87_1323+91dup
NM_000036.2:c.1323+87_1323+91dup	NP_000027.2:n.1323+87_1323+91dup
NM_001172626.1:c.1311+87_1311+91dup	NP_001166097.1:n.1311+87_1311+91dup
NM_000036.3:c.1224+87_1224+91dup MANE Select	NP_000027.3:n.1224+87_1224+91dup
NM_001172626.2:c.1212+87_1212+91dup	NP_001166097.2:n.1212+87_1212+91dup