Canonical Allele Identifier: CA2632821520

Gene: VKORC1

Linked Data

• gnomAD v4: 16-31091247-CGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091251_31091253del , CM000678.2:g.31091251_31091253del	GRCh38
NC_000016.9:g.31102572_31102574del , CM000678.1:g.31102572_31102574del	GRCh37
NC_000016.8:g.31010073_31010075del	NCBI36
NG_011564.1:g.8706_8708del

Transcript Alleles

HGVS	Amino-acid change
ENST00000394975.3:c.376_378del MANE Select	ENSP00000378426.2:p.Phe126del
ENST00000300851.10:c.437_439del	ENSP00000300851.6:p.Leu146del
ENST00000319788.11:c.458_460del	ENSP00000326135.7:p.Leu153del
ENST00000354895.4:c.266_268del	ENSP00000346969.4:p.Leu89del
ENST00000394971.7:c.470_472del	ENSP00000378422.3:p.Leu157del
ENST00000394975.2:c.376_378del	ENSP00000378426.2:p.Phe126del
ENST00000420057.2:c.338_340del
ENST00000472468.1:c.61_63del	ENSP00000458994.1:p.Phe21del
ENST00000498155.1:c.473_475del	ENSP00000417662.1:p.Leu158del
ENST00000529564.1:c.283+2062_283+2064del	ENSP00000431371.1:n.283+2062_283+2064del
ENST00000532364.1:c.173+3307_173+3309del	ENSP00000460316.1:n.173+3307_173+3309del
ENST00000533518.5:c.249_251del
NM_001311311.1:c.460_462del	NP_001298240.1:p.Phe154del
NM_024006.4:c.376_378del	NP_076869.1:p.Phe126del
NM_024006.5:c.376_378del	NP_076869.1:p.Phe126del
NM_206824.1:c.266_268del	NP_996560.1:p.Leu89del
NM_206824.2:c.266_268del	NP_996560.1:p.Leu89del
XM_011545944.1:c.376_378del	XP_011544246.1:p.Phe126del
XM_011545945.1:c.266_268del	XP_011544247.1:p.Leu89del
XR_950848.1:n.1164_1166del
NM_024006.6:c.376_378del MANE Select	NP_076869.1:p.Phe126del
NM_001311311.2:c.460_462del	NP_001298240.1:p.Phe154del
NM_206824.3:c.266_268del	NP_996560.1:p.Leu89del