Canonical Allele Identifier: CA2684466607

Gene: SLC26A4

Linked Data

• gnomAD v4: 7-107690366-C-CTTTACTAAGGCGGGGACACTTAAAAAATAAATATA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107690366_107690367insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA , CM000669.2:g.107690366_107690367insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA	GRCh38
NC_000007.13:g.107330811_107330812insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA , CM000669.1:g.107330811_107330812insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA	GRCh37
NC_000007.12:g.107118047_107118048insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA	NCBI36
NG_008489.1:g.34732_34733insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA MANE Select	ENSP00000494017.1:n.1263+129_1263+130insTTTACTAAGGCGGGGACACTT...
ENST00000265715.7:c.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA	ENSP00000265715.3:n.1263+129_1263+130insTTTACTAAGGCGGGGACACTT...
NM_000441.1:c.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA	NP_000432.1:n.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAAAAA...
XM_005250425.1:c.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA	XP_005250482.1:n.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAA...
XM_006716025.2:c.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA	XP_006716088.1:n.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAA...
XM_005250425.2:c.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA	XP_005250482.1:n.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAA...
XM_006716025.3:c.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA	XP_006716088.1:n.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAA...
XM_017012318.1:c.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA	XP_016867807.1:n.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAA...
NM_000441.2:c.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAAAAATAAATATA MANE Select	NP_000432.1:n.1263+129_1263+130insTTTACTAAGGCGGGGACACTTAAAAAA...