Canonical Allele Identifier: CA844156395

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1245053710
• gnomAD v3: 7-96121720-CTG-C
• gnomAD v4: 7-96121720-CTG-C
• MyVariant Identifiers: chr7:g.95751033_95751034del (hg19) ; chr7:g.96121721_96121722del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121721_96121722del , CM000669.2:g.96121721_96121722del	GRCh38
NC_000007.13:g.95751033_95751034del , CM000669.1:g.95751033_95751034del	GRCh37
NC_000007.12:g.95588969_95588970del	NCBI36
NG_012247.1:g.205426_205427del
NG_012247.2:g.205426_205427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1774_1775del MANE Select	ENSP00000265631.6:p.Gln592ValfsTer18
ENST00000265631.9:c.1774_1775del	ENSP00000265631.5:p.Gln592ValfsTer18
ENST00000416240.6:c.1777_1778del	ENSP00000400101.2:p.Gln593ValfsTer18
ENST00000494085.1:n.277_278del
NM_001160210.1:c.1777_1778del	NP_001153682.1:p.Gln593ValfsTer18
NM_014251.2:c.1774_1775del	NP_055066.1:p.Gln592ValfsTer18
NR_027662.1:n.1849_1850del
XM_006715831.2:c.1807_1808del	XP_006715894.1:p.Gln603ValfsTer18
XM_011515728.1:c.922_923del	XP_011514030.1:p.Gln308ValfsTer18
XM_006715831.4:c.1807_1808del	XP_006715894.1:p.Gln603ValfsTer18
XM_017011663.1:c.1765_1766del	XP_016867152.1:p.Gln589ValfsTer18
XM_017011664.2:c.922_923del	XP_016867153.1:p.Gln308ValfsTer18
XM_017011665.1:c.922_923del	XP_016867154.1:p.Gln308ValfsTer18
XR_001744525.2:n.2020_2021del
XR_002956405.1:n.2578_2579del
NM_014251.3:c.1774_1775del MANE Select	NP_055066.1:p.Gln592ValfsTer18
NR_027662.2:n.1800_1801del
NM_001160210.2:c.1777_1778del	NP_001153682.1:p.Gln593ValfsTer18