Canonical Allele Identifier: CA1727518322

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1791525679
• gnomAD v4: 7-96121908-C-CGCTGTAAGTGGTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121911_96121925dup , CM000669.2:g.96121911_96121925dup	GRCh38
NC_000007.13:g.95751223_95751237dup , CM000669.1:g.95751223_95751237dup	GRCh37
NC_000007.12:g.95589159_95589173dup	NCBI36
NG_012247.1:g.205225_205239dup
NG_012247.2:g.205225_205239dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1666_1680dup MANE Select	ENSP00000265631.6:p.Ser560_Gly561insGlnThrThrTyrSer
ENST00000265631.9:c.1666_1680dup	ENSP00000265631.5:p.Ser560_Gly561insGlnThrThrTyrSer
ENST00000416240.6:c.1669_1683dup	ENSP00000400101.2:p.Ser561_Gly562insGlnThrThrTyrSer
ENST00000494085.1:n.76_90dup
NM_001160210.1:c.1669_1683dup	NP_001153682.1:p.Ser561_Gly562insGlnThrThrTyrSer
NM_014251.2:c.1666_1680dup	NP_055066.1:p.Ser560_Gly561insGlnThrThrTyrSer
NR_027662.1:n.1741_1755dup
XM_006715831.2:c.1699_1713dup	XP_006715894.1:p.Ser571_Gly572insGlnThrThrTyrSer
XM_011515728.1:c.814_828dup	XP_011514030.1:p.Ser276_Gly277insGlnThrThrTyrSer
XM_006715831.4:c.1699_1713dup	XP_006715894.1:p.Ser571_Gly572insGlnThrThrTyrSer
XM_017011663.1:c.1657_1671dup	XP_016867152.1:p.Ser557_Gly558insGlnThrThrTyrSer
XM_017011664.2:c.814_828dup	XP_016867153.1:p.Ser276_Gly277insGlnThrThrTyrSer
XM_017011665.1:c.814_828dup	XP_016867154.1:p.Ser276_Gly277insGlnThrThrTyrSer
XR_001744525.2:n.1912_1926dup
XR_002956405.1:n.2470_2484dup
NM_014251.3:c.1666_1680dup MANE Select	NP_055066.1:p.Ser560_Gly561insGlnThrThrTyrSer
NR_027662.2:n.1692_1706dup
NM_001160210.2:c.1669_1683dup	NP_001153682.1:p.Ser561_Gly562insGlnThrThrTyrSer