Canonical Allele Identifier: CA6378280
Gene: SLC6A13 HGNC NCBI

Linked Data

dbSNP Id: rs770357135

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.242621_242622del , CM000674.2:g.242621_242622del GRCh38
NC_000012.11:g.351787_351788del , CM000674.1:g.351787_351788del GRCh37
NC_000012.10:g.222048_222049del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343164.9:c.470_471del MANE Select ENSP00000339260.4:p.Trp157Ter
ENST00000343164.8:c.470_471del ENSP00000339260.4:p.Trp157Ter
ENST00000445055.6:c.203-4612_203-4611del ENSP00000407104.2:n.203-4612_203-4611del
ENST00000536842.5:n.523_524del
ENST00000539260.1:c.*109_*110del ENSP00000437386.1:n.*109_*110del
ENST00000542272.5:c.113_114del ENSP00000443466.1:p.Trp38Ter
ENST00000546319.5:c.203-4612_203-4611del ENSP00000444606.1:n.203-4612_203-4611del
NM_001190997.2:c.203-4612_203-4611del NP_001177926.1:n.203-4612_203-4611del
NM_016615.4:c.470_471del NP_057699.2:p.Trp157Ter
XM_005253749.2:c.536_537del XP_005253806.1:p.Trp179Ter
XM_011521012.1:c.113_114del XP_011519314.1:p.Trp38Ter
XM_011521013.1:c.-190_-189del XP_011519315.1:n.-190_-189del
XM_011521014.1:c.-190_-189del XP_011519316.1:n.-190_-189del
XM_011521012.2:c.113_114del XP_011519314.1:p.Trp38Ter
XM_017019844.1:c.470_471del XP_016875333.1:p.Trp157Ter
XM_017019846.1:c.470_471del XP_016875335.1:p.Trp157Ter
XM_017019847.1:c.470_471del XP_016875336.1:p.Trp157Ter
XR_001748849.1:n.523_524del
XR_002957372.1:n.523_524del
NM_016615.5:c.470_471del MANE Select NP_057699.2:p.Trp157Ter
NM_001190997.3:c.203-4612_203-4611del NP_001177926.1:n.203-4612_203-4611del