Canonical Allele Identifier: CA605706799
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1420062
ClinVar RCV Id: RCV001913989
dbSNP Id: rs1292600354
gnomAD v2: 12-58157918-TTGTC-T
gnomAD v3: 12-57764135-TTGTC-T
gnomAD v4: 12-57764135-TTGTC-T
MyVariant Identifiers: chr12:g.58157919_58157922del (hg19) chr12:g.57764136_57764139del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764138_57764141del , CM000674.2:g.57764138_57764141del GRCh38
NC_000012.11:g.58157921_58157924del , CM000674.1:g.58157921_58157924del GRCh37
NC_000012.10:g.56444188_56444191del NCBI36
NG_007076.1:g.8055_8058del

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1255_1258del ENSP00000518840.1:p.Asp419LysfsTer?
ENST00000713545.1:c.*179_*182del ENSP00000518841.1:n.*179_*182del
ENST00000228606.9:c.1174_1177del MANE Select ENSP00000228606.4:p.Asp392LysfsTer?
ENST00000228606.8:c.1174_1177del ENSP00000228606.4:p.Asp392LysfsTer?
ENST00000547344.5:n.1313_1316del
NM_000785.3:c.1174_1177del NP_000776.1:p.Asp392LysfsTer?
NM_000785.4:c.1174_1177del MANE Select NP_000776.1:p.Asp392LysfsTer?
Search 100 bp 5'
Search 100 bp 3'