Canonical Allele Identifier: CA1044068248

Gene: AGXT

Linked Data

• dbSNP Id: rs2059001109
• gnomAD v3: 2-240873168-CCAGGCCCAGGGAAA-C
• gnomAD v4: 2-240873168-CCAGGCCCAGGGAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873171_240873184del , CM000664.2:g.240873171_240873184del	GRCh38
NC_000002.11:g.241812588_241812601del , CM000664.1:g.241812588_241812601del	GRCh37
NC_000002.10:g.241461261_241461274del	NCBI36
NG_008005.1:g.9427_9440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.595+122_595+135del MANE Select	ENSP00000302620.3:n.595+122_595+135del
ENST00000307503.3:c.595+122_595+135del	ENSP00000302620.3:n.595+122_595+135del
ENST00000472436.1:n.737_750del
ENST00000476698.1:n.332+122_332+135del
NM_000030.2:c.595+122_595+135del	NP_000021.1:n.595+122_595+135del
NM_000030.3:c.595+122_595+135del MANE Select	NP_000021.1:n.595+122_595+135del