Canonical Allele Identifier: CA2647248041

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677846-C-CTTCCTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677848_114677855dup , CM000663.2:g.114677848_114677855dup	GRCh38
NC_000001.10:g.115220469_115220476dup , CM000663.1:g.115220469_115220476dup	GRCh37
NC_000001.9:g.115021992_115021999dup	NCBI36
NG_008012.1:g.22702_22709dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+56_1212+63dup	ENSP00000358551.4:n.1212+56_1212+63dup
ENST00000520113.7:c.1224+56_1224+63dup MANE Select	ENSP00000430075.3:n.1224+56_1224+63dup
ENST00000637080.1:c.1007+56_1007+63dup	ENSP00000489753.1:n.1007+56_1007+63dup
ENST00000639077.1:n.889+56_889+63dup
ENST00000369538.3:c.1311+56_1311+63dup	ENSP00000358551.3:n.1311+56_1311+63dup
ENST00000520113.6:c.1323+56_1323+63dup	ENSP00000430075.2:n.1323+56_1323+63dup
NM_000036.2:c.1323+56_1323+63dup	NP_000027.2:n.1323+56_1323+63dup
NM_001172626.1:c.1311+56_1311+63dup	NP_001166097.1:n.1311+56_1311+63dup
NM_000036.3:c.1224+56_1224+63dup MANE Select	NP_000027.3:n.1224+56_1224+63dup
NM_001172626.2:c.1212+56_1212+63dup	NP_001166097.2:n.1212+56_1212+63dup