Canonical Allele Identifier: CA981136822

Gene: SLC13A5

Linked Data

• gnomAD v3: 17-6703857-GTGCCCTGGCCAGGGGCTCACCTGGCAGCTCCTTGGCCT-G
• gnomAD v4: 17-6703857-GTGCCCTGGCCAGGGGCTCACCTGGCAGCTCCTTGGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703864_6703901del , CM000679.2:g.6703864_6703901del	GRCh38
NC_000017.10:g.6607183_6607220del , CM000679.1:g.6607183_6607220del	GRCh37
NC_000017.9:g.6547907_6547944del	NCBI36
NG_034220.1:g.14527_14564del , LRG_1020:g.14527_14564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.530_547+20del
ENST00000293800.10:c.479_496+20del
ENST00000381074.8:c.401_418+20del
ENST00000433363.6:c.530_547+20del
ENST00000572094.1:c.*280_*297+20del
ENST00000572352.5:c.419_436+20del
ENST00000573648.5:c.530_547+20del
ENST00000574824.5:n.1663_1680+20del
NM_001143838.2:c.530_547+20del
NM_001284509.1:c.479_496+20del
NM_001284510.1:c.401_418+20del
NM_177550.4:c.530_547+20del , LRG_1020t1:c.530_547+20del
XM_006721504.2:c.419_436+20del
XM_011523795.1:c.530_547+20del
XM_011523795.3:c.530_547+20del
NM_001143838.3:c.530_547+20del
NM_001284509.2:c.479_496+20del
NM_001284510.2:c.401_418+20del
NM_177550.5:c.530_547+20del