Canonical Allele Identifier: CA2664009647

Gene: AGXT

Linked Data

• gnomAD v4: 2-240875991-T-TGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875991_240875992insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC , CM000664.2:g.240875991_240875992insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC	GRCh38
NC_000002.11:g.241815408_241815409insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC , CM000664.1:g.241815408_241815409insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC	GRCh37
NC_000002.10:g.241464081_241464082insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC	NCBI36
NG_008005.1:g.12247_12248insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.833_834insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC MANE Select	ENSP00000302620.3:p.Ile279ProfsTer?
ENST00000307503.3:c.833_834insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC	ENSP00000302620.3:p.Ile279ProfsTer?
ENST00000476698.1:n.485_486insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC
NM_000030.2:c.833_834insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC	NP_000021.1:p.Ile279ProfsTer?
NM_000030.3:c.833_834insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC MANE Select	NP_000021.1:p.Ile279ProfsTer?