Canonical Allele Identifier: CA2548291676

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107661801_107661803dup , CM000669.2:g.107661801_107661803dup	GRCh38
NC_000007.13:g.107302246_107302248dup , CM000669.1:g.107302246_107302248dup	GRCh37
NC_000007.12:g.107089482_107089484dup	NCBI36
NG_008489.1:g.6167_6169dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.160_162dup MANE Select	ENSP00000494017.1:p.Cys54_Ser55insCys
ENST00000265715.7:c.160_162dup	ENSP00000265715.3:p.Cys54_Ser55insCys
ENST00000440056.1:c.160_162dup	ENSP00000394760.1:p.Cys54_Ser55insCys
NM_000441.1:c.160_162dup	NP_000432.1:p.Cys54_Ser55insCys
XM_005250425.1:c.160_162dup	XP_005250482.1:p.Cys54_Ser55insCys
XM_006716025.2:c.160_162dup	XP_006716088.1:p.Cys54_Ser55insCys
XM_005250425.2:c.160_162dup	XP_005250482.1:p.Cys54_Ser55insCys
XM_006716025.3:c.160_162dup	XP_006716088.1:p.Cys54_Ser55insCys
XM_017012318.1:c.160_162dup	XP_016867807.1:p.Cys54_Ser55insCys
NM_000441.2:c.160_162dup MANE Select	NP_000432.1:p.Cys54_Ser55insCys