Canonical Allele Identifier: CA557394841

Gene: SLC25A4

Linked Data

• gnomAD v2: 4-186065857-C-CTTTT
• MyVariant Identifiers: chr4:g.186065857_186065858insTTTT (hg19) ; chr4:g.185144703_185144704insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185144704_185144705insTTTT , CM000666.2:g.185144704_185144705insTTTT	GRCh38
NC_000004.11:g.186065858_186065859insTTTT , CM000666.1:g.186065858_186065859insTTTT	GRCh37
NC_000004.10:g.186302852_186302853insTTTT	NCBI36
NG_013001.1:g.6442_6443insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.112-60_112-59insTTTT MANE Select	ENSP00000281456.5:n.112-60_112-59insTTTT
ENST00000281456.10:c.112-60_112-59insTTTT	ENSP00000281456.5:n.112-60_112-59insTTTT
ENST00000491736.1:c.112-60_112-59insTTTT	ENSP00000476711.1:n.112-60_112-59insTTTT
NM_001151.3:c.112-60_112-59insTTTT	NP_001142.2:n.112-60_112-59insTTTT
NM_001151.4:c.112-60_112-59insTTTT MANE Select	NP_001142.2:n.112-60_112-59insTTTT