Canonical Allele Identifier: CA577029562

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1423137834
• gnomAD v2: 7-107303930-CT-C
• gnomAD v4: 7-107663485-CT-C
• MyVariant Identifiers: chr7:g.107303931del (hg19) ; chr7:g.107663486del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107663487del , CM000669.2:g.107663487del	GRCh38
NC_000007.13:g.107303932del , CM000669.1:g.107303932del	GRCh37
NC_000007.12:g.107091168del	NCBI36
NG_008489.1:g.7853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.304+52del MANE Select	ENSP00000494017.1:n.304+52del
ENST00000265715.7:c.304+52del	ENSP00000265715.3:n.304+52del
ENST00000440056.1:c.304+52del	ENSP00000394760.1:n.304+52del
NM_000441.1:c.304+52del	NP_000432.1:n.304+52del
XM_005250425.1:c.304+52del	XP_005250482.1:n.304+52del
XM_006716025.2:c.304+52del	XP_006716088.1:n.304+52del
XM_005250425.2:c.304+52del	XP_005250482.1:n.304+52del
XM_006716025.3:c.304+52del	XP_006716088.1:n.304+52del
XM_017012318.1:c.304+52del	XP_016867807.1:n.304+52del
NM_000441.2:c.304+52del MANE Select	NP_000432.1:n.304+52del