Canonical Allele Identifier: CA6658144
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs754559171
ExAC: 12:58157433 T / TCTCCC
gnomAD v2: 12-58157433-T-TCTCCC
gnomAD v3: 12-57763650-T-TCTCCC
gnomAD v4: 12-57763650-T-TCTCCC
MyVariant Identifiers: chr12:g.58157433_58157434insCTCCC (hg19) chr12:g.57763650_57763651insCTCCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763652_57763656dup , CM000674.2:g.57763652_57763656dup GRCh38
NC_000012.11:g.58157435_58157439dup , CM000674.1:g.58157435_58157439dup GRCh37
NC_000012.10:g.56443702_56443706dup NCBI36
NG_007076.1:g.8539_8543dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1450_1454dup ENSP00000518840.1:p.Arg486GlyfsTer17
ENST00000713545.1:c.*374_*378dup ENSP00000518841.1:n.*374_*378dup
ENST00000228606.9:c.1369_1373dup MANE Select ENSP00000228606.4:p.Arg459GlyfsTer17
ENST00000228606.8:c.1369_1373dup ENSP00000228606.4:p.Arg459GlyfsTer17
ENST00000547344.5:n.1508_1512dup
NM_000785.3:c.1369_1373dup NP_000776.1:p.Arg459GlyfsTer17
NM_000785.4:c.1369_1373dup MANE Select NP_000776.1:p.Arg459GlyfsTer17
Search 100 bp 5'
Search 100 bp 3'