Canonical Allele Identifier: CA2647247469

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677761-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677763_114677764del , CM000663.2:g.114677763_114677764del	GRCh38
NC_000001.10:g.115220384_115220385del , CM000663.1:g.115220384_115220385del	GRCh37
NC_000001.9:g.115021907_115021908del	NCBI36
NG_008012.1:g.22793_22794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+147_1212+148del	ENSP00000358551.4:n.1212+147_1212+148del
ENST00000520113.7:c.1224+147_1224+148del MANE Select	ENSP00000430075.3:n.1224+147_1224+148del
ENST00000637080.1:c.1007+147_1007+148del	ENSP00000489753.1:n.1007+147_1007+148del
ENST00000639077.1:n.889+147_889+148del
ENST00000369538.3:c.1311+147_1311+148del	ENSP00000358551.3:n.1311+147_1311+148del
ENST00000520113.6:c.1323+147_1323+148del	ENSP00000430075.2:n.1323+147_1323+148del
NM_000036.2:c.1323+147_1323+148del	NP_000027.2:n.1323+147_1323+148del
NM_001172626.1:c.1311+147_1311+148del	NP_001166097.1:n.1311+147_1311+148del
NM_000036.3:c.1224+147_1224+148del MANE Select	NP_000027.3:n.1224+147_1224+148del
NM_001172626.2:c.1212+147_1212+148del	NP_001166097.2:n.1212+147_1212+148del