Canonical Allele Identifier: CA2580617075
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1726623
ClinVar RCV Id: RCV002310307
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710148_107710151del , CM000669.2:g.107710148_107710151del GRCh38
NC_000007.13:g.107350593_107350596del , CM000669.1:g.107350593_107350596del GRCh37
NC_000007.12:g.107137829_107137832del NCBI36
NG_008489.1:g.54514_54517del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2184_2187del MANE Select ENSP00000494017.1:p.Leu729ArgfsTer4
ENST00000644846.1:c.840_843del
ENST00000265715.7:c.2184_2187del ENSP00000265715.3:p.Leu729ArgfsTer4
ENST00000492030.2:n.377-7_377-4del
NM_000441.1:c.2184_2187del NP_000432.1:p.Leu729ArgfsTer4
XM_005250425.1:c.2184_2187del XP_005250482.1:p.Leu729ArgfsTer4
XM_005250425.2:c.2184_2187del XP_005250482.1:p.Leu729ArgfsTer4
XM_017012318.1:c.2106_2109del XP_016867807.1:p.Leu703ArgfsTer4
NM_000441.2:c.2184_2187del MANE Select NP_000432.1:p.Leu729ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'