Canonical Allele Identifier: CA178383152
Community Standard Title: NM_004820.5(CYP7B1):c.1234-99_1234-88del
Gene: CYP7B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64597020_64597031del , CM000670.2:g.64597020_64597031del GRCh38
NC_000008.10:g.65509577_65509588del , CM000670.1:g.65509577_65509588del GRCh37
NC_000008.9:g.65672131_65672142del NCBI36
NG_008338.1:g.206764_206775del
NG_008338.2:g.206764_206775del

Transcript Alleles

HGVS Amino-acid Change
NM_004820.5:c.1234-99_1234-88del MANE Select NP_004811.1:n.1234-99_1234-88del
ENST00000310193.4:c.1234-99_1234-88del MANE Select ENSP00000310721.3:n.1234-99_1234-88del
NM_001324112.1:c.1234-7184_1234-7173del NP_001311041.1:n.1234-7184_1234-7173del
NM_001324112.2:c.1234-7184_1234-7173del NP_001311041.1:n.1234-7184_1234-7173del
NM_004820.3:c.1234-99_1234-88del NP_004811.1:n.1234-99_1234-88del
NM_004820.4:c.1234-99_1234-88del NP_004811.1:n.1234-99_1234-88del
ENST00000310193.3:c.1234-99_1234-88del ENSP00000310721.3:n.1234-99_1234-88del
ENST00000523954.1:n.508-7184_508-7173del
XM_017014002.1:c.1300-99_1300-88del XP_016869491.1:n.1300-99_1300-88del