Canonical Allele Identifier: CA1105638879

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1791538017
• gnomAD v3: 7-107690473-T-TCATGTAGCTACACTTACCTGC
• gnomAD v4: 7-107690473-T-TCATGTAGCTACACTTACCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107690474_107690494dup , CM000669.2:g.107690474_107690494dup	GRCh38
NC_000007.13:g.107330919_107330939dup , CM000669.1:g.107330919_107330939dup	GRCh37
NC_000007.12:g.107118155_107118175dup	NCBI36
NG_008489.1:g.34840_34860dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1263+237_1263+257dup MANE Select	ENSP00000494017.1:n.1263+237_1263+257dup
ENST00000265715.7:c.1263+237_1263+257dup	ENSP00000265715.3:n.1263+237_1263+257dup
NM_000441.1:c.1263+237_1263+257dup	NP_000432.1:n.1263+237_1263+257dup
XM_005250425.1:c.1263+237_1263+257dup	XP_005250482.1:n.1263+237_1263+257dup
XM_006716025.2:c.1263+237_1263+257dup	XP_006716088.1:n.1263+237_1263+257dup
XM_005250425.2:c.1263+237_1263+257dup	XP_005250482.1:n.1263+237_1263+257dup
XM_006716025.3:c.1263+237_1263+257dup	XP_006716088.1:n.1263+237_1263+257dup
XM_017012318.1:c.1263+237_1263+257dup	XP_016867807.1:n.1263+237_1263+257dup
NM_000441.2:c.1263+237_1263+257dup MANE Select	NP_000432.1:n.1263+237_1263+257dup