Canonical Allele Identifier: CA2039016008
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764048_57764049delinsCA , CM000674.2:g.57764048_57764049delinsCA GRCh38
NC_000012.11:g.58157831_58157832delinsCA , CM000674.1:g.58157831_58157832delinsCA GRCh37
NC_000012.10:g.56444098_56444099delinsCA NCBI36
NG_007076.1:g.8145_8146delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1296+49_1296+50delinsTG ENSP00000518840.1:n.1296+49_1296+50delins...
ENST00000713545.1:c.*220+49_*220+50delinsTG ENSP00000518841.1:n.*220+49_*220+50delins...
ENST00000228606.9:c.1215+49_1215+50delinsTG MANE Select ENSP00000228606.4:n.1215+49_1215+50delins...
ENST00000228606.8:c.1215+49_1215+50delinsTG ENSP00000228606.4:n.1215+49_1215+50delins...
ENST00000547344.5:n.1354+49_1354+50delinsTG
NM_000785.3:c.1215+49_1215+50delinsTG NP_000776.1:n.1215+49_1215+50delinsTG
NM_000785.4:c.1215+49_1215+50delinsTG MANE Select NP_000776.1:n.1215+49_1215+50delinsTG
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