Canonical Allele Identifier: CA916267287

Gene: AMPD1

Linked Data

• dbSNP Id: rs1557969479
• gnomAD v4: 1-114677790-CCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677794_114677797del , CM000663.2:g.114677794_114677797del	GRCh38
NC_000001.10:g.115220415_115220418del , CM000663.1:g.115220415_115220418del	GRCh37
NC_000001.9:g.115021938_115021941del	NCBI36
NG_008012.1:g.22762_22765del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+116_1212+119del	ENSP00000358551.4:n.1212+116_1212+119del
ENST00000520113.7:c.1224+116_1224+119del MANE Select	ENSP00000430075.3:n.1224+116_1224+119del
ENST00000637080.1:c.1007+116_1007+119del	ENSP00000489753.1:n.1007+116_1007+119del
ENST00000639077.1:n.889+116_889+119del
ENST00000369538.3:c.1311+116_1311+119del	ENSP00000358551.3:n.1311+116_1311+119del
ENST00000520113.6:c.1323+116_1323+119del	ENSP00000430075.2:n.1323+116_1323+119del
NM_000036.2:c.1323+116_1323+119del	NP_000027.2:n.1323+116_1323+119del
NM_001172626.1:c.1311+116_1311+119del	NP_001166097.1:n.1311+116_1311+119del
NM_000036.3:c.1224+116_1224+119del MANE Select	NP_000027.3:n.1224+116_1224+119del
NM_001172626.2:c.1212+116_1212+119del	NP_001166097.2:n.1212+116_1212+119del