Canonical Allele Identifier: CA831167570

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1294990835
• gnomAD v3: 7-107675236-TG-T
• gnomAD v4: 7-107675236-TG-T
• MyVariant Identifiers: chr7:g.107315682del (hg19) ; chr7:g.107675237del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107675239del , CM000669.2:g.107675239del	GRCh38
NC_000007.13:g.107315684del , CM000669.1:g.107315684del	GRCh37
NC_000007.12:g.107102920del	NCBI36
NG_008489.1:g.19605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.765+130del MANE Select	ENSP00000494017.1:n.765+130del
ENST00000265715.7:c.765+130del	ENSP00000265715.3:n.765+130del
NM_000441.1:c.765+130del	NP_000432.1:n.765+130del
XM_005250425.1:c.765+130del	XP_005250482.1:n.765+130del
XM_006716025.2:c.765+130del	XP_006716088.1:n.765+130del
XM_005250425.2:c.765+130del	XP_005250482.1:n.765+130del
XM_006716025.3:c.765+130del	XP_006716088.1:n.765+130del
XM_017012318.1:c.765+130del	XP_016867807.1:n.765+130del
NM_000441.2:c.765+130del MANE Select	NP_000432.1:n.765+130del