Canonical Allele Identifier: CA2647248100

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677849-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677850_114677851del , CM000663.2:g.114677850_114677851del	GRCh38
NC_000001.10:g.115220471_115220472del , CM000663.1:g.115220471_115220472del	GRCh37
NC_000001.9:g.115021994_115021995del	NCBI36
NG_008012.1:g.22705_22706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+59_1212+60del	ENSP00000358551.4:n.1212+59_1212+60del
ENST00000520113.7:c.1224+59_1224+60del MANE Select	ENSP00000430075.3:n.1224+59_1224+60del
ENST00000637080.1:c.1007+59_1007+60del	ENSP00000489753.1:n.1007+59_1007+60del
ENST00000639077.1:n.889+59_889+60del
ENST00000369538.3:c.1311+59_1311+60del	ENSP00000358551.3:n.1311+59_1311+60del
ENST00000520113.6:c.1323+59_1323+60del	ENSP00000430075.2:n.1323+59_1323+60del
NM_000036.2:c.1323+59_1323+60del	NP_000027.2:n.1323+59_1323+60del
NM_001172626.1:c.1311+59_1311+60del	NP_001166097.1:n.1311+59_1311+60del
NM_000036.3:c.1224+59_1224+60del MANE Select	NP_000027.3:n.1224+59_1224+60del
NM_001172626.2:c.1212+59_1212+60del	NP_001166097.2:n.1212+59_1212+60del