Canonical Allele Identifier: CA2647248007

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677827-TTCCTTCCTTCCTTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677829_114677843del , CM000663.2:g.114677829_114677843del	GRCh38
NC_000001.10:g.115220450_115220464del , CM000663.1:g.115220450_115220464del	GRCh37
NC_000001.9:g.115021973_115021987del	NCBI36
NG_008012.1:g.22714_22728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+68_1212+82del	ENSP00000358551.4:n.1212+68_1212+82del
ENST00000520113.7:c.1224+68_1224+82del MANE Select	ENSP00000430075.3:n.1224+68_1224+82del
ENST00000637080.1:c.1007+68_1007+82del	ENSP00000489753.1:n.1007+68_1007+82del
ENST00000639077.1:n.889+68_889+82del
ENST00000369538.3:c.1311+68_1311+82del	ENSP00000358551.3:n.1311+68_1311+82del
ENST00000520113.6:c.1323+68_1323+82del	ENSP00000430075.2:n.1323+68_1323+82del
NM_000036.2:c.1323+68_1323+82del	NP_000027.2:n.1323+68_1323+82del
NM_001172626.1:c.1311+68_1311+82del	NP_001166097.1:n.1311+68_1311+82del
NM_000036.3:c.1224+68_1224+82del MANE Select	NP_000027.3:n.1224+68_1224+82del
NM_001172626.2:c.1212+68_1212+82del	NP_001166097.2:n.1212+68_1212+82del