Canonical Allele Identifier: CA658656001
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 446458
ClinVar RCV Id: RCV000515662
dbSNP Id: rs1554362735
MyVariant Identifiers: chr7:g.107350515_107350519dup (hg19) chr7:g.107710070_107710074dup (hg38)
PubMed: PMID:24105851
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710070_107710074dup , CM000669.2:g.107710070_107710074dup GRCh38
NC_000007.13:g.107350515_107350519dup , CM000669.1:g.107350515_107350519dup GRCh37
NC_000007.12:g.107137751_107137755dup NCBI36
NG_008489.1:g.54436_54440dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2106_2110dup MANE Select ENSP00000494017.1:p.Glu704GlyfsTer19
ENST00000644846.1:c.762_766dup
ENST00000265715.7:c.2106_2110dup ENSP00000265715.3:p.Glu704GlyfsTer19
ENST00000492030.2:n.377-85_377-81dup
NM_000441.1:c.2106_2110dup NP_000432.1:p.Glu704GlyfsTer19
XM_005250425.1:c.2106_2110dup XP_005250482.1:p.Glu704GlyfsTer19
XM_005250425.2:c.2106_2110dup XP_005250482.1:p.Glu704GlyfsTer19
XM_017012318.1:c.2028_2032dup XP_016867807.1:p.Glu678GlyfsTer19
NM_000441.2:c.2106_2110dup MANE Select NP_000432.1:p.Glu704GlyfsTer19
Search 100 bp 5'
Search 100 bp 3'