Canonical Allele Identifier: CA1190276450

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658035997

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677786_114677797del , CM000663.2:g.114677786_114677797del	GRCh38
NC_000001.10:g.115220407_115220418del , CM000663.1:g.115220407_115220418del	GRCh37
NC_000001.9:g.115021930_115021941del	NCBI36
NG_008012.1:g.22761_22772del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+115_1212+126del	ENSP00000358551.4:n.1212+115_1212+126del
ENST00000520113.7:c.1224+115_1224+126del MANE Select	ENSP00000430075.3:n.1224+115_1224+126del
ENST00000637080.1:c.1007+115_1007+126del	ENSP00000489753.1:n.1007+115_1007+126del
ENST00000639077.1:n.889+115_889+126del
ENST00000369538.3:c.1311+115_1311+126del	ENSP00000358551.3:n.1311+115_1311+126del
ENST00000520113.6:c.1323+115_1323+126del	ENSP00000430075.2:n.1323+115_1323+126del
NM_000036.2:c.1323+115_1323+126del	NP_000027.2:n.1323+115_1323+126del
NM_001172626.1:c.1311+115_1311+126del	NP_001166097.1:n.1311+115_1311+126del
NM_000036.3:c.1224+115_1224+126del MANE Select	NP_000027.3:n.1224+115_1224+126del
NM_001172626.2:c.1212+115_1212+126del	NP_001166097.2:n.1212+115_1212+126del