Canonical Allele Identifier: CA2039015913
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763998_57764000delinsGGA , CM000674.2:g.57763998_57764000delinsGGA GRCh38
NC_000012.11:g.58157781_58157783delinsGGA , CM000674.1:g.58157781_58157783delinsGGA GRCh37
NC_000012.10:g.56444048_56444050delinsGGA NCBI36
NG_007076.1:g.8194_8196delinsTCC

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1296+98_1296+100delinsTCC ENSP00000518840.1:n.1296+98_1296+100delin...
ENST00000713545.1:c.*220+98_*220+100delinsTCC ENSP00000518841.1:n.*220+98_*220+100delin...
ENST00000228606.9:c.1215+98_1215+100delinsTCC MANE Select ENSP00000228606.4:n.1215+98_1215+100delin...
ENST00000228606.8:c.1215+98_1215+100delinsTCC ENSP00000228606.4:n.1215+98_1215+100delin...
ENST00000547344.5:n.1354+98_1354+100delinsTCC
NM_000785.3:c.1215+98_1215+100delinsTCC NP_000776.1:n.1215+98_1215+100delinsTCC
NM_000785.4:c.1215+98_1215+100delinsTCC MANE Select NP_000776.1:n.1215+98_1215+100delinsTCC
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