Canonical Allele Identifier: CA4352742

Gene: SLC25A13

Linked Data

• dbSNP Id: rs761219835
• ExAC: 7:95750612 TAGCCCCCAACGTGATC / T
• gnomAD v2: 7-95750612-TAGCCCCCAACGTGATC-T
• gnomAD v4: 7-96121300-TAGCCCCCAACGTGATC-T
• MyVariant Identifiers: chr7:g.95750613_95750628del (hg19) ; chr7:g.96121301_96121316del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121303_96121318del , CM000669.2:g.96121303_96121318del	GRCh38
NC_000007.13:g.95750615_95750630del , CM000669.1:g.95750615_95750630del	GRCh37
NC_000007.12:g.95588551_95588566del	NCBI36
NG_012247.1:g.205832_205847del
NG_012247.2:g.205832_205847del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1903_1918del MANE Select	ENSP00000265631.6:p.Asp635ThrfsTer?
ENST00000265631.9:c.1903_1918del	ENSP00000265631.5:p.Asp635ThrfsTer?
ENST00000416240.6:c.1906_1921del	ENSP00000400101.2:p.Asp636ThrfsTer?
ENST00000494085.1:n.406_421del
NM_001160210.1:c.1906_1921del	NP_001153682.1:p.Asp636ThrfsTer?
NM_014251.2:c.1903_1918del	NP_055066.1:p.Asp635ThrfsTer?
NR_027662.1:n.1978_1993del
XM_006715831.2:c.1936_1951del	XP_006715894.1:p.Asp646ThrfsTer?
XM_011515728.1:c.1051_1066del	XP_011514030.1:p.Asp351ThrfsTer?
XM_006715831.4:c.1936_1951del	XP_006715894.1:p.Asp646ThrfsTer?
XM_017011663.1:c.1894_1909del	XP_016867152.1:p.Asp632ThrfsTer?
XM_017011664.2:c.1051_1066del	XP_016867153.1:p.Asp351ThrfsTer?
XM_017011665.1:c.1051_1066del	XP_016867154.1:p.Asp351ThrfsTer?
XR_001744525.2:n.2149_2164del
XR_002956405.1:n.2707_2722del
NM_014251.3:c.1903_1918del MANE Select	NP_055066.1:p.Asp635ThrfsTer?
NR_027662.2:n.1929_1944del
NM_001160210.2:c.1906_1921del	NP_001153682.1:p.Asp636ThrfsTer?