Canonical Allele Identifier: CA658821811
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 550239
ClinVar RCV Id: RCV000664934
dbSNP Id: rs1554362748
MyVariant Identifiers: chr7:g.107710099_107710101del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710099_107710101del , CM000669.2:g.107710099_107710101del GRCh38
NC_000007.13:g.107350544_107350546del , CM000669.1:g.107350544_107350546del GRCh37
NC_000007.12:g.107137780_107137782del NCBI36
NG_008489.1:g.54465_54467del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2135_2137del MANE Select ENSP00000494017.1:p.Asn712del
ENST00000644846.1:c.791_793del
ENST00000265715.7:c.2135_2137del ENSP00000265715.3:p.Asn712del
ENST00000492030.2:n.377-56_377-54del
NM_000441.1:c.2135_2137del NP_000432.1:p.Asn712del
XM_005250425.1:c.2135_2137del XP_005250482.1:p.Asn712del
XM_005250425.2:c.2135_2137del XP_005250482.1:p.Asn712del
XM_017012318.1:c.2057_2059del XP_016867807.1:p.Asn686del
NM_000441.2:c.2135_2137del MANE Select NP_000432.1:p.Asn712del
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