Canonical Allele Identifier: CA1732751379
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs1792143648
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710164_107710175del , CM000669.2:g.107710164_107710175del GRCh38
NC_000007.13:g.107350609_107350620del , CM000669.1:g.107350609_107350620del GRCh37
NC_000007.12:g.107137845_107137856del NCBI36
NG_008489.1:g.54530_54541del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2200_2211del MANE Select ENSP00000494017.1:p.Lys734_Glu737del
ENST00000644846.1:c.856_867del
ENST00000265715.7:c.2200_2211del ENSP00000265715.3:p.Lys734_Glu737del
ENST00000492030.2:n.386_397del
NM_000441.1:c.2200_2211del NP_000432.1:p.Lys734_Glu737del
XM_005250425.1:c.2200_2211del XP_005250482.1:p.Lys734_Glu737del
XM_005250425.2:c.2200_2211del XP_005250482.1:p.Lys734_Glu737del
XM_017012318.1:c.2122_2133del XP_016867807.1:p.Lys708_Glu711del
NM_000441.2:c.2200_2211del MANE Select NP_000432.1:p.Lys734_Glu737del
Search 100 bp 5'
Search 100 bp 3'