Canonical Allele Identifier: CA2647248027

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677840-TCCTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677842_114677846del , CM000663.2:g.114677842_114677846del	GRCh38
NC_000001.10:g.115220463_115220467del , CM000663.1:g.115220463_115220467del	GRCh37
NC_000001.9:g.115021986_115021990del	NCBI36
NG_008012.1:g.22711_22715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+65_1212+69del	ENSP00000358551.4:n.1212+65_1212+69del
ENST00000520113.7:c.1224+65_1224+69del MANE Select	ENSP00000430075.3:n.1224+65_1224+69del
ENST00000637080.1:c.1007+65_1007+69del	ENSP00000489753.1:n.1007+65_1007+69del
ENST00000639077.1:n.889+65_889+69del
ENST00000369538.3:c.1311+65_1311+69del	ENSP00000358551.3:n.1311+65_1311+69del
ENST00000520113.6:c.1323+65_1323+69del	ENSP00000430075.2:n.1323+65_1323+69del
NM_000036.2:c.1323+65_1323+69del	NP_000027.2:n.1323+65_1323+69del
NM_001172626.1:c.1311+65_1311+69del	NP_001166097.1:n.1311+65_1311+69del
NM_000036.3:c.1224+65_1224+69del MANE Select	NP_000027.3:n.1224+65_1224+69del
NM_001172626.2:c.1212+65_1212+69del	NP_001166097.2:n.1212+65_1212+69del