Canonical Allele Identifier: CA1339330696
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868816_240868824delinsCCAAGGCCA , CM000664.2:g.240868816_240868824delinsCCAAGGCCA GRCh38
NC_000002.11:g.241808233_241808241delinsCCAAGGCCA , CM000664.1:g.241808233_241808241delinsCCAAGGCCA GRCh37
NC_000002.10:g.241456906_241456914delinsCCAAGGCCA NCBI36
NG_008005.1:g.5072_5080delinsCCAAGGCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.3:c.-50_-42delinsCCAAGGCCA ENSP00000302620.3:n.-50_-42delinsCCAAGGCCA
NM_000030.2:c.-50_-42delinsCCAAGGCCA NP_000021.1:n.-50_-42delinsCCAAGGCCA
XR_924060.1:n.405+1409_405+1417delinsTGGCCTTGG