Canonical Allele Identifier: CA1071902578

Gene: SLC25A4

Linked Data

• dbSNP Id: rs1734404048
• gnomAD v3: 4-185144606-ACAGTATCCATTTACACGTCCT-A
• gnomAD v4: 4-185144606-ACAGTATCCATTTACACGTCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185144619_185144639del , CM000666.2:g.185144619_185144639del	GRCh38
NC_000004.11:g.186065773_186065793del , CM000666.1:g.186065773_186065793del	GRCh37
NC_000004.10:g.186302767_186302787del	NCBI36
NG_013001.1:g.6357_6377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.112-145_112-125del MANE Select	ENSP00000281456.5:n.112-145_112-125del
ENST00000281456.10:c.112-145_112-125del	ENSP00000281456.5:n.112-145_112-125del
ENST00000491736.1:c.112-145_112-125del	ENSP00000476711.1:n.112-145_112-125del
NM_001151.3:c.112-145_112-125del	NP_001142.2:n.112-145_112-125del
NM_001151.4:c.112-145_112-125del MANE Select	NP_001142.2:n.112-145_112-125del