Canonical Allele Identifier: CA804207739
Gene: SAR1B HGNC NCBI

Linked Data

dbSNP Id: rs1272941911
MyVariant Identifiers: chr5:g.133942549_133942550del (hg19) chr5:g.134606859_134606860del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134606861_134606862del , CM000667.2:g.134606861_134606862del GRCh38
NC_000005.9:g.133942551_133942552del , CM000667.1:g.133942551_133942552del GRCh37
NC_000005.8:g.133970450_133970451del NCBI36
NG_017002.1:g.30984_30985del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402673.7:c.*90_*91del MANE Select ENSP00000385432.2:n.*90_*91del
ENST00000402673.6:c.*90_*91del ENSP00000385432.2:n.*90_*91del
ENST00000439578.5:c.*90_*91del ENSP00000404997.1:n.*90_*91del
ENST00000502539.5:c.*90_*91del ENSP00000426335.1:n.*90_*91del
ENST00000507419.5:c.*90_*91del ENSP00000425339.1:n.*90_*91del
ENST00000508363.5:n.2656_2657del
NM_001033503.2:c.*90_*91del NP_001028675.1:n.*90_*91del
NM_016103.3:c.*90_*91del NP_057187.1:n.*90_*91del
NM_016103.4:c.*90_*91del MANE Select NP_057187.1:n.*90_*91del
NM_001033503.3:c.*90_*91del NP_001028675.1:n.*90_*91del
Search 100 bp 5'
Search 100 bp 3'