Canonical Allele Identifier: CA1657429806
Gene: RFX6 HGNC NCBI

Linked Data

dbSNP Id: rs1774606252
gnomAD v4: 6-116882336-TA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882338del , CM000668.2:g.116882338del GRCh38
NC_000006.11:g.117203501del , CM000668.1:g.117203501del GRCh37
NC_000006.10:g.117310194del NCBI36
NG_027699.1:g.10126del

Transcript Alleles

HGVS Amino-acid change
ENST00000332958.3:c.505-29del MANE Select ENSP00000332208.2:n.505-29del
ENST00000332958.2:c.505-29del ENSP00000332208.2:n.505-29del
ENST00000487683.5:n.569-29del
NM_173560.3:c.505-29del NP_775831.2:n.505-29del
XM_011535589.1:c.505-29del XP_011533891.1:n.505-29del
XM_017010477.1:c.127-29del XP_016865966.1:n.127-29del
NM_173560.4:c.505-29del MANE Select NP_775831.2:n.505-29del
Search 100 bp 5'
Search 100 bp 3'