Canonical Allele Identifier: CA2602903168

Gene: SLC26A4

Linked Data

• dbSNP Id: rs2129318193
• gnomAD v3: 7-107701598-GT-G
• gnomAD v4: 7-107701598-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701600del , CM000669.2:g.107701600del	GRCh38
NC_000007.13:g.107342045del , CM000669.1:g.107342045del	GRCh37
NC_000007.12:g.107129281del	NCBI36
NG_008489.1:g.45966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1804-227del MANE Select	ENSP00000494017.1:n.1804-227del
ENST00000644846.1:c.515-227del
ENST00000265715.7:c.1804-227del	ENSP00000265715.3:n.1804-227del
ENST00000480841.5:n.653-227del
ENST00000492030.2:n.91-227del
NM_000441.1:c.1804-227del	NP_000432.1:n.1804-227del
XM_005250425.1:c.1804-227del	XP_005250482.1:n.1804-227del
XM_005250425.2:c.1804-227del	XP_005250482.1:n.1804-227del
XM_017012318.1:c.1726-227del	XP_016867807.1:n.1726-227del
NM_000441.2:c.1804-227del MANE Select	NP_000432.1:n.1804-227del