Canonical Allele Identifier: CA557032731

Gene: SLC25A4

Linked Data

• dbSNP Id: rs1459674570
• gnomAD v2: 4-186064638-G-GTCCAGCATGCCAGCAAACAGATCAGTGC
• MyVariant Identifiers: chr4:g.186064638_186064639insTCCAGCATGCCAGCAAACAGATCAGTGC (hg19) ; chr4:g.185143484_185143485insTCCAGCATGCCAGCAAACAGATCAGTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185143485_185143486insCCAGCATGCCAGCAAACAGATCAGTGCT , CM000666.2:g.185143485_185143486insCCAGCATGCCAGCAAACAGATCAGTGCT	GRCh38
NC_000004.11:g.186064639_186064640insCCAGCATGCCAGCAAACAGATCAGTGCT , CM000666.1:g.186064639_186064640insCCAGCATGCCAGCAAACAGATCAGTGCT	GRCh37
NC_000004.10:g.186301633_186301634insCCAGCATGCCAGCAAACAGATCAGTGCT	NCBI36
NG_013001.1:g.5223_5224insCCAGCATGCCAGCAAACAGATCAGTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGCT MANE Select	ENSP00000281456.5:n.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGC...
ENST00000281456.10:c.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGCT	ENSP00000281456.5:n.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGC...
ENST00000491736.1:c.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGCT	ENSP00000476711.1:n.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGC...
NM_001151.3:c.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGCT	NP_001142.2:n.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGCT
NM_001151.4:c.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGCT MANE Select	NP_001142.2:n.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGCT