Canonical Allele Identifier: CA831179309

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1296273847
• gnomAD v3: 7-107690463-T-TGCTTACCTGTCATGTAGCTAC
• gnomAD v4: 7-107690463-T-TGCTTACCTGTCATGTAGCTAC
• MyVariant Identifiers: chr7:g.107330908_107330909insGCTTACCTGTCATGTAGCTAC (hg19) ; chr7:g.107690463_107690464insGCTTACCTGTCATGTAGCTAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107690464_107690484dup , CM000669.2:g.107690464_107690484dup	GRCh38
NC_000007.13:g.107330909_107330929dup , CM000669.1:g.107330909_107330929dup	GRCh37
NC_000007.12:g.107118145_107118165dup	NCBI36
NG_008489.1:g.34830_34850dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1263+227_1263+247dup MANE Select	ENSP00000494017.1:n.1263+227_1263+247dup
ENST00000265715.7:c.1263+227_1263+247dup	ENSP00000265715.3:n.1263+227_1263+247dup
NM_000441.1:c.1263+227_1263+247dup	NP_000432.1:n.1263+227_1263+247dup
XM_005250425.1:c.1263+227_1263+247dup	XP_005250482.1:n.1263+227_1263+247dup
XM_006716025.2:c.1263+227_1263+247dup	XP_006716088.1:n.1263+227_1263+247dup
XM_005250425.2:c.1263+227_1263+247dup	XP_005250482.1:n.1263+227_1263+247dup
XM_006716025.3:c.1263+227_1263+247dup	XP_006716088.1:n.1263+227_1263+247dup
XM_017012318.1:c.1263+227_1263+247dup	XP_016867807.1:n.1263+227_1263+247dup
NM_000441.2:c.1263+227_1263+247dup MANE Select	NP_000432.1:n.1263+227_1263+247dup