Canonical Allele Identifier: CA164227945

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1246093
• ClinVar RCV Id: RCV001654185 ; RCV001832834
• dbSNP Id: rs112211967
• gnomAD v2: 7-107350439-A-AAAAC
• gnomAD v3: 7-107709994-A-AAAAC
• gnomAD v4: 7-107709994-A-AAAAC
• MyVariant Identifiers: chr7:g.107350439_107350440insAAAC (hg19) ; chr7:g.107709994_107709995insAAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107710002_107710005dup , CM000669.2:g.107710002_107710005dup	GRCh38
NC_000007.13:g.107350447_107350450dup , CM000669.1:g.107350447_107350450dup	GRCh37
NC_000007.12:g.107137683_107137686dup	NCBI36
NG_008489.1:g.54368_54371dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.2090-52_2090-49dup MANE Select	ENSP00000494017.1:n.2090-52_2090-49dup
ENST00000644846.1:c.746-52_746-49dup
ENST00000265715.7:c.2090-52_2090-49dup	ENSP00000265715.3:n.2090-52_2090-49dup
ENST00000492030.2:n.377-153_377-150dup
NM_000441.1:c.2090-52_2090-49dup	NP_000432.1:n.2090-52_2090-49dup
XM_005250425.1:c.2090-52_2090-49dup	XP_005250482.1:n.2090-52_2090-49dup
XM_005250425.2:c.2090-52_2090-49dup	XP_005250482.1:n.2090-52_2090-49dup
XM_017012318.1:c.2012-52_2012-49dup	XP_016867807.1:n.2012-52_2012-49dup
NM_000441.2:c.2090-52_2090-49dup MANE Select	NP_000432.1:n.2090-52_2090-49dup