Canonical Allele Identifier: CA831169187

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1308683052
• gnomAD v3: 7-107701777-A-AAAG
• gnomAD v4: 7-107701777-A-AAAG
• MyVariant Identifiers: chr7:g.107342222_107342223insAAG (hg19) ; chr7:g.107701777_107701778insAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701779_107701781dup , CM000669.2:g.107701779_107701781dup	GRCh38
NC_000007.13:g.107342224_107342226dup , CM000669.1:g.107342224_107342226dup	GRCh37
NC_000007.12:g.107129460_107129462dup	NCBI36
NG_008489.1:g.46145_46147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1804-48_1804-46dup MANE Select	ENSP00000494017.1:n.1804-48_1804-46dup
ENST00000644846.1:c.515-48_515-46dup
ENST00000265715.7:c.1804-48_1804-46dup	ENSP00000265715.3:n.1804-48_1804-46dup
ENST00000480841.5:n.653-48_653-46dup
ENST00000492030.2:n.91-48_91-46dup
NM_000441.1:c.1804-48_1804-46dup	NP_000432.1:n.1804-48_1804-46dup
XM_005250425.1:c.1804-48_1804-46dup	XP_005250482.1:n.1804-48_1804-46dup
XM_005250425.2:c.1804-48_1804-46dup	XP_005250482.1:n.1804-48_1804-46dup
XM_017012318.1:c.1726-48_1726-46dup	XP_016867807.1:n.1726-48_1726-46dup
NM_000441.2:c.1804-48_1804-46dup MANE Select	NP_000432.1:n.1804-48_1804-46dup