Canonical Allele Identifier: CA760701175
Gene: CYBRD1 HGNC NCBI

Linked Data

dbSNP Id: rs1270750463
MyVariant Identifiers: chr2:g.172411175_172411180del (hg19) chr2:g.171554665_171554670del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171554665_171554670del , CM000664.2:g.171554665_171554670del GRCh38
NC_000002.11:g.172411175_172411180del , CM000664.1:g.172411175_172411180del GRCh37
NC_000002.10:g.172119421_172119426del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000321348.9:c.699_704del MANE Select ENSP00000319141.4:p.Ile234_Leu235del
ENST00000321348.8:c.699_704del ENSP00000319141.4:p.Ile234_Leu235del
ENST00000375252.3:c.*16_*21del ENSP00000364401.3:n.*16_*21del
ENST00000409484.5:c.525_530del ENSP00000386739.1:p.Ile176_Leu177del
NM_001127383.1:c.*16_*21del NP_001120855.1:n.*16_*21del
NM_001256909.1:c.525_530del NP_001243838.1:p.Ile176_Leu177del
NM_024843.3:c.699_704del NP_079119.3:p.Ile234_Leu235del
NM_024843.4:c.699_704del MANE Select NP_079119.3:p.Ile234_Leu235del
NM_001127383.2:c.*16_*21del NP_001120855.1:n.*16_*21del
NM_001256909.2:c.525_530del NP_001243838.1:p.Ile176_Leu177del
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