Canonical Allele Identifier: CA557394838
Gene: SLC25A4 HGNC NCBI

Linked Data

dbSNP Id: rs1734405993
gnomAD v2: 4-186065855-T-TCCTGTCCTCTTCCCTTCTCTCTACCCTG
gnomAD v3: 4-185144701-T-TCCTGTCCTCTTCCCTTCTCTCTACCCTG
gnomAD v4: 4-185144701-T-TCCTGTCCTCTTCCCTTCTCTCTACCCTG
MyVariant Identifiers: chr4:g.186065857_186065858insTGTCCTCTTCCCTTCTCTCTACCCTGCC (hg19) chr4:g.185144703_185144704insTGTCCTCTTCCCTTCTCTCTACCCTGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144712_185144739dup , CM000666.2:g.185144712_185144739dup GRCh38
NC_000004.11:g.186065866_186065893dup , CM000666.1:g.186065866_186065893dup GRCh37
NC_000004.10:g.186302860_186302887dup NCBI36
NG_013001.1:g.6450_6477dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.112-52_112-25dup MANE Select ENSP00000281456.5:n.112-52_112-25dup
ENST00000281456.10:c.112-52_112-25dup ENSP00000281456.5:n.112-52_112-25dup
ENST00000491736.1:c.112-52_112-25dup ENSP00000476711.1:n.112-52_112-25dup
NM_001151.3:c.112-52_112-25dup NP_001142.2:n.112-52_112-25dup
NM_001151.4:c.112-52_112-25dup MANE Select NP_001142.2:n.112-52_112-25dup
Search 100 bp 5'
Search 100 bp 3'