Canonical Allele Identifier: CA44383307
Gene: RAB10 HGNC NCBI

Linked Data

dbSNP Id: rs140479291
gnomAD v3: 2-26135209-CA-C
gnomAD v4: 2-26135209-CA-C
MyVariant Identifiers: chr2:g.26358079del (hg19) chr2:g.26135210del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26135216del , CM000664.2:g.26135216del GRCh38
NC_000002.11:g.26358085del , CM000664.1:g.26358085del GRCh37
NC_000002.10:g.26211589del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000264710.5:c.*195del MANE Select ENSP00000264710.4:n.*195del
ENST00000264710.4:c.*195del ENSP00000264710.4:n.*195del
ENST00000495146.5:n.1161del
NM_016131.4:c.*195del NP_057215.3:n.*195del
XM_024452565.1:c.*195del XP_024308333.1:n.*195del
NM_016131.5:c.*195del MANE Select NP_057215.3:n.*195del
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