Canonical Allele Identifier: CA2578988682
Gene: SLC26A4 HGNC NCBI

Linked Data

gnomAD v4: 7-107689255-CAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689257_107689258del , CM000669.2:g.107689257_107689258del GRCh38
NC_000007.13:g.107329702_107329703del , CM000669.1:g.107329702_107329703del GRCh37
NC_000007.12:g.107116938_107116939del NCBI36
NG_008489.1:g.33623_33624del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1149+57_1149+58del MANE Select ENSP00000494017.1:n.1149+57_1149+58del
ENST00000265715.7:c.1149+57_1149+58del ENSP00000265715.3:n.1149+57_1149+58del
NM_000441.1:c.1149+57_1149+58del NP_000432.1:n.1149+57_1149+58del
XM_005250425.1:c.1149+57_1149+58del XP_005250482.1:n.1149+57_1149+58del
XM_006716025.2:c.1149+57_1149+58del XP_006716088.1:n.1149+57_1149+58del
XM_005250425.2:c.1149+57_1149+58del XP_005250482.1:n.1149+57_1149+58del
XM_006716025.3:c.1149+57_1149+58del XP_006716088.1:n.1149+57_1149+58del
XM_017012318.1:c.1149+57_1149+58del XP_016867807.1:n.1149+57_1149+58del
NM_000441.2:c.1149+57_1149+58del MANE Select NP_000432.1:n.1149+57_1149+58del
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