Canonical Allele Identifier: CA981132690

Gene: SLC13A5

Linked Data

• gnomAD v3: 17-6696068-G-GTAGATCTC
• gnomAD v4: 17-6696068-G-GTAGATCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6696068_6696069insTAGATCTC , CM000679.2:g.6696068_6696069insTAGATCTC	GRCh38
NC_000017.10:g.6599387_6599388insTAGATCTC , CM000679.1:g.6599387_6599388insTAGATCTC	GRCh37
NC_000017.9:g.6540111_6540112insTAGATCTC	NCBI36
NG_034220.1:g.22353_22354insGAGATCTA , LRG_1020:g.22353_22354insGAGATCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.840-128_840-127insGAGATCTA MANE Select	ENSP00000406220.2:n.840-128_840-127insGAGATCTA
ENST00000293800.10:c.789-128_789-127insGAGATCTA	ENSP00000293800.6:n.789-128_789-127insGAGATCTA
ENST00000381074.8:c.711-128_711-127insGAGATCTA	ENSP00000370464.4:n.711-128_711-127insGAGATCTA
ENST00000433363.6:c.840-128_840-127insGAGATCTA	ENSP00000406220.2:n.840-128_840-127insGAGATCTA
ENST00000572094.1:c.*590-128_*590-127insGAGATCTA	ENSP00000461495.1:n.*590-128_*590-127insGAGATCTA
ENST00000573648.5:c.840-128_840-127insGAGATCTA	ENSP00000459372.1:n.840-128_840-127insGAGATCTA
ENST00000574824.5:n.1973-128_1973-127insGAGATCTA
NM_001143838.2:c.840-128_840-127insGAGATCTA	NP_001137310.1:n.840-128_840-127insGAGATCTA
NM_001284509.1:c.789-128_789-127insGAGATCTA	NP_001271438.1:n.789-128_789-127insGAGATCTA
NM_001284510.1:c.711-128_711-127insGAGATCTA	NP_001271439.1:n.711-128_711-127insGAGATCTA
NM_177550.4:c.840-128_840-127insGAGATCTA , LRG_1020t1:c.840-128_840-127insGAGATCTA	NP_808218.1:n.840-128_840-127insGAGATCTA
XM_006721504.2:c.729-128_729-127insGAGATCTA	XP_006721567.1:n.729-128_729-127insGAGATCTA
XM_011523795.1:c.840-128_840-127insGAGATCTA	XP_011522097.1:n.840-128_840-127insGAGATCTA
XM_011523795.3:c.840-128_840-127insGAGATCTA	XP_011522097.1:n.840-128_840-127insGAGATCTA
NM_001143838.3:c.840-128_840-127insGAGATCTA	NP_001137310.1:n.840-128_840-127insGAGATCTA
NM_001284509.2:c.789-128_789-127insGAGATCTA	NP_001271438.1:n.789-128_789-127insGAGATCTA
NM_001284510.2:c.711-128_711-127insGAGATCTA	NP_001271439.1:n.711-128_711-127insGAGATCTA
NM_177550.5:c.840-128_840-127insGAGATCTA MANE Select	NP_808218.1:n.840-128_840-127insGAGATCTA