Canonical Allele Identifier: CA4352765

Gene: SLC25A13

Linked Data

• dbSNP Id: rs753984940
• ExAC: 7:95750921 A / ATTAGCAGCAGCCAAAAT
• gnomAD v2: 7-95750921-A-ATTAGCAGCAGCCAAAAT
• gnomAD v3: 7-96121609-A-ATTAGCAGCAGCCAAAAT
• gnomAD v4: 7-96121609-A-ATTAGCAGCAGCCAAAAT
• MyVariant Identifiers: chr7:g.95750921_95750922insTTAGCAGCAGCCAAAAT (hg19) ; chr7:g.96121609_96121610insTTAGCAGCAGCCAAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121620_96121636dup , CM000669.2:g.96121620_96121636dup	GRCh38
NC_000007.13:g.95750932_95750948dup , CM000669.1:g.95750932_95750948dup	GRCh37
NC_000007.12:g.95588868_95588884dup	NCBI36
NG_012247.1:g.205522_205538dup
NG_012247.2:g.205522_205538dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1841+29_1841+45dup MANE Select	ENSP00000265631.6:n.1841+29_1841+45dup
ENST00000265631.9:c.1841+29_1841+45dup	ENSP00000265631.5:n.1841+29_1841+45dup
ENST00000416240.6:c.1844+29_1844+45dup	ENSP00000400101.2:n.1844+29_1844+45dup
ENST00000494085.1:n.344+29_344+45dup
NM_001160210.1:c.1844+29_1844+45dup	NP_001153682.1:n.1844+29_1844+45dup
NM_014251.2:c.1841+29_1841+45dup	NP_055066.1:n.1841+29_1841+45dup
NR_027662.1:n.1916+29_1916+45dup
XM_006715831.2:c.1874+29_1874+45dup	XP_006715894.1:n.1874+29_1874+45dup
XM_011515728.1:c.989+29_989+45dup	XP_011514030.1:n.989+29_989+45dup
XM_006715831.4:c.1874+29_1874+45dup	XP_006715894.1:n.1874+29_1874+45dup
XM_017011663.1:c.1832+29_1832+45dup	XP_016867152.1:n.1832+29_1832+45dup
XM_017011664.2:c.989+29_989+45dup	XP_016867153.1:n.989+29_989+45dup
XM_017011665.1:c.989+29_989+45dup	XP_016867154.1:n.989+29_989+45dup
XR_001744525.2:n.2087+29_2087+45dup
XR_002956405.1:n.2645+29_2645+45dup
NM_014251.3:c.1841+29_1841+45dup MANE Select	NP_055066.1:n.1841+29_1841+45dup
NR_027662.2:n.1867+29_1867+45dup
NM_001160210.2:c.1844+29_1844+45dup	NP_001153682.1:n.1844+29_1844+45dup