Canonical Allele Identifier: CA2216888573

Gene: VKORC1

Linked Data

• dbSNP Id: rs2057283567
• gnomAD v4: 16-31090935-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090938_31090939del , CM000678.2:g.31090938_31090939del	GRCh38
NC_000016.9:g.31102259_31102260del , CM000678.1:g.31102259_31102260del	GRCh37
NC_000016.8:g.31009760_31009761del	NCBI36
NG_011564.1:g.9019_9020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394975.3:c.*197_*198del MANE Select	ENSP00000378426.2:n.*197_*198del
ENST00000300851.10:c.*300_*301del	ENSP00000300851.6:n.*300_*301del
ENST00000319788.11:c.*300_*301del	ENSP00000326135.7:n.*300_*301del
ENST00000354895.4:c.*300_*301del	ENSP00000346969.4:n.*300_*301del
ENST00000394975.2:c.*197_*198del	ENSP00000378426.2:n.*197_*198del
ENST00000420057.2:c.651_652del
ENST00000529564.1:c.283+2375_283+2376del	ENSP00000431371.1:n.283+2375_283+2376del
ENST00000532364.1:c.173+3620_173+3621del	ENSP00000460316.1:n.173+3620_173+3621del
ENST00000533518.5:c.407+155_407+156del
NM_001311311.1:c.*197_*198del	NP_001298240.1:n.*197_*198del
NM_024006.4:c.*197_*198del	NP_076869.1:n.*197_*198del
NM_024006.5:c.*197_*198del	NP_076869.1:n.*197_*198del
NM_206824.1:c.*300_*301del	NP_996560.1:n.*300_*301del
NM_206824.2:c.*300_*301del	NP_996560.1:n.*300_*301del
XM_011545944.1:c.*197_*198del	XP_011544246.1:n.*197_*198del
XM_011545945.1:c.*300_*301del	XP_011544247.1:n.*300_*301del
XR_950848.1:n.1477_1478del
NM_024006.6:c.*197_*198del MANE Select	NP_076869.1:n.*197_*198del
NM_001311311.2:c.*197_*198del	NP_001298240.1:n.*197_*198del
NM_206824.3:c.*300_*301del	NP_996560.1:n.*300_*301del