Canonical Allele Identifier: CA576707855

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1562828397
• gnomAD v2: 7-95818753-ATTTAAAAACATCCCTTTTTTCATTTCTCATATTTCAGTATAGCCTTCAGTTTGGCTTCTTTTTCTCCTGATTGCTGCCCTCCTCCTAACCTCCTTTTAT-A
• gnomAD v3: 7-96189441-ATTTAAAAACATCCCTTTTTTCATTTCTCATATTTCAGTATAGCCTTCAGTTTGGCTTCTTTTTCTCCTGATTGCTGCCCTCCTCCTAACCTCCTTTTAT-A
• gnomAD v4: 7-96189441-ATTTAAAAACATCCCTTTTTTCATTTCTCATATTTCAGTATAGCCTTCAGTTTGGCTTCTTTTTCTCCTGATTGCTGCCCTCCTCCTAACCTCCTTTTAT-A
• MyVariant Identifiers: chr7:g.95818754_95818852del (hg19) ; chr7:g.96189442_96189540del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189443_96189541del , CM000669.2:g.96189443_96189541del	GRCh38
NC_000007.13:g.95818755_95818853del , CM000669.1:g.95818755_95818853del	GRCh37
NC_000007.12:g.95656691_95656789del	NCBI36
NG_012247.1:g.137608_137706del
NG_012247.2:g.137608_137706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.848+41_849-64del MANE Select	ENSP00000265631.6:n.848+41_849-64del
ENST00000265631.9:c.848+41_849-64del	ENSP00000265631.5:n.848+41_849-64del
ENST00000416240.6:c.848+41_849-64del	ENSP00000400101.2:n.848+41_849-64del
NM_001160210.1:c.848+41_849-64del	NP_001153682.1:n.848+41_849-64del
NM_014251.2:c.848+41_849-64del	NP_055066.1:n.848+41_849-64del
NR_027662.1:n.923+41_924-64del
XM_006715831.2:c.881+41_882-64del	XP_006715894.1:n.881+41_882-64del
XM_011515727.1:c.881+41_882-64del	XP_011514029.1:n.881+41_882-64del
XM_011515728.1:c.-4-162_-4-64del	XP_011514030.1:n.-4-162_-4-64del
XM_006715831.4:c.881+41_882-64del	XP_006715894.1:n.881+41_882-64del
XM_011515727.3:c.881+41_882-64del	XP_011514029.1:n.881+41_882-64del
XM_017011663.1:c.839+41_840-64del	XP_016867152.1:n.839+41_840-64del
XM_017011664.2:c.-4-162_-4-64del	XP_016867153.1:n.-4-162_-4-64del
XM_017011665.1:c.-4-162_-4-64del	XP_016867154.1:n.-4-162_-4-64del
XR_001744525.2:n.1019+41_1020-64del
XR_002956405.1:n.1161+41_1162-64del
NM_014251.3:c.848+41_849-64del MANE Select	NP_055066.1:n.848+41_849-64del
NR_027662.2:n.874+41_875-64del
NM_001160210.2:c.848+41_849-64del	NP_001153682.1:n.848+41_849-64del