Canonical Allele Identifier: CA1339336052
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059040612

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878555_240878578del , CM000664.2:g.240878555_240878578del GRCh38
NC_000002.11:g.241817972_241817995del , CM000664.1:g.241817972_241817995del GRCh37
NC_000002.10:g.241466645_241466668del NCBI36
NG_008005.1:g.14811_14834del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1072-159_1072-136del MANE Select ENSP00000302620.3:n.1072-159_1072-136del
ENST00000307503.3:c.1072-159_1072-136del ENSP00000302620.3:n.1072-159_1072-136del
ENST00000470255.1:n.850-159_850-136del
NM_000030.2:c.1072-159_1072-136del NP_000021.1:n.1072-159_1072-136del
NM_000030.3:c.1072-159_1072-136del MANE Select NP_000021.1:n.1072-159_1072-136del