Canonical Allele Identifier: CA831168617

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1219838451
• gnomAD v3: 7-107663833-G-GCCACTA
• gnomAD v4: 7-107663833-G-GCCACTA
• MyVariant Identifiers: chr7:g.107304278_107304279insCCACTA (hg19) ; chr7:g.107663833_107663834insCCACTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107663835_107663840dup , CM000669.2:g.107663835_107663840dup	GRCh38
NC_000007.13:g.107304280_107304285dup , CM000669.1:g.107304280_107304285dup	GRCh37
NC_000007.12:g.107091516_107091521dup	NCBI36
NG_008489.1:g.8201_8206dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.304+400_304+405dup MANE Select	ENSP00000494017.1:n.304+400_304+405dup
ENST00000265715.7:c.304+400_304+405dup	ENSP00000265715.3:n.304+400_304+405dup
ENST00000440056.1:c.304+400_304+405dup	ENSP00000394760.1:n.304+400_304+405dup
NM_000441.1:c.304+400_304+405dup	NP_000432.1:n.304+400_304+405dup
XM_005250425.1:c.304+400_304+405dup	XP_005250482.1:n.304+400_304+405dup
XM_006716025.2:c.304+400_304+405dup	XP_006716088.1:n.304+400_304+405dup
XM_005250425.2:c.304+400_304+405dup	XP_005250482.1:n.304+400_304+405dup
XM_006716025.3:c.304+400_304+405dup	XP_006716088.1:n.304+400_304+405dup
XM_017012318.1:c.304+400_304+405dup	XP_016867807.1:n.304+400_304+405dup
NM_000441.2:c.304+400_304+405dup MANE Select	NP_000432.1:n.304+400_304+405dup