Canonical Allele Identifier: CA279901
Community Standard Title: NM_177550.5(SLC13A5):c.1207_1217dup (p.Pro407ArgfsTer12)
Gene: SLC13A5 HGNC NCBI
C17orf100 HGNC NCBI
ALOX15P1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6693102_6693112dup , CM000679.2:g.6693102_6693112dup GRCh38
NC_000017.10:g.6596421_6596431dup , CM000679.1:g.6596421_6596431dup GRCh37
NC_000017.9:g.6537145_6537155dup NCBI36
NG_034220.1:g.25310_25320dup , LRG_1020:g.25310_25320dup

Transcript Alleles

HGVS Amino-acid Change
NM_177550.5:c.1207_1217dup (SLC13A5) MANE Select NP_808218.1:p.Pro407ArgfsTer12
ENST00000433363.7:c.1207_1217dup (SLC13A5) MANE Select ENSP00000406220.2:p.Pro407ArgfsTer12
NM_001143838.2:c.1207_1217dup (SLC13A5) NP_001137310.1:p.Pro407ArgfsTer12
NM_001143838.3:c.1207_1217dup (SLC13A5) NP_001137310.1:p.Pro407ArgfsTer12
NM_001284509.1:c.1156_1166dup (SLC13A5) NP_001271438.1:p.Pro390ArgfsTer12
NM_001284509.2:c.1156_1166dup (SLC13A5) NP_001271438.1:p.Pro390ArgfsTer12
NM_001284510.1:c.1078_1088dup (SLC13A5) NP_001271439.1:p.Pro364ArgfsTer12
NM_001284510.2:c.1078_1088dup (SLC13A5) NP_001271439.1:p.Pro364ArgfsTer12
NM_177550.4:c.1207_1217dup , LRG_1020t1:c.1207_1217dup (SLC13A5) NP_808218.1:p.Pro407ArgfsTer12
ENST00000293800.10:c.1156_1166dup (SLC13A5) ENSP00000293800.6:p.Pro390ArgfsTer12
ENST00000381074.8:c.1078_1088dup (SLC13A5) ENSP00000370464.4:p.Pro364ArgfsTer12
ENST00000433363.6:c.1207_1217dup (SLC13A5) ENSP00000406220.2:p.Pro407ArgfsTer12
ENST00000572727.1:n.316_326dup (SLC13A5)
ENST00000573648.5:c.1207_1217dup (SLC13A5) ENSP00000459372.1:p.Pro407ArgfsTer12
ENST00000634558.1:n.900_910dup (ALOX15P1)
ENST00000634823.1:n.502_512dup (ALOX15P1)
ENST00000635042.1:n.962_972dup (C17orf100)
XM_006721504.2:c.1096_1106dup (SLC13A5) XP_006721567.1:p.Pro370ArgfsTer12
XM_011523795.1:c.1207_1217dup (SLC13A5) XP_011522097.1:p.Pro407ArgfsTer12
XM_011523795.3:c.1207_1217dup (SLC13A5) XP_011522097.1:p.Pro407ArgfsTer12
Search 100 bp 5'
Search 100 bp 3'