Canonical Allele Identifier: CA2632821519

Gene: VKORC1

Linked Data

• gnomAD v4: 16-31091238-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091240_31091241del , CM000678.2:g.31091240_31091241del	GRCh38
NC_000016.9:g.31102561_31102562del , CM000678.1:g.31102561_31102562del	GRCh37
NC_000016.8:g.31010062_31010063del	NCBI36
NG_011564.1:g.8716_8717del

Transcript Alleles

HGVS	Amino-acid change
ENST00000394975.3:c.386_387del MANE Select	ENSP00000378426.2:p.Tyr129Ter
ENST00000300851.10:c.447_448del	ENSP00000300851.6:p.Ter150IleextTer14
ENST00000319788.11:c.468_469del	ENSP00000326135.7:p.Ter157IleextTer14
ENST00000354895.4:c.276_277del	ENSP00000346969.4:p.Ter93IleextTer14
ENST00000394971.7:c.480_481del	ENSP00000378422.3:p.Ter161IleextTer14
ENST00000394975.2:c.386_387del	ENSP00000378426.2:p.Tyr129Ter
ENST00000420057.2:c.348_349del
ENST00000472468.1:c.71_72del	ENSP00000458994.1:p.Tyr24Ter
ENST00000498155.1:c.483_484del	ENSP00000417662.1:p.Ter162IleextTer14
ENST00000529564.1:c.283+2072_283+2073del	ENSP00000431371.1:n.283+2072_283+2073del
ENST00000532364.1:c.173+3317_173+3318del	ENSP00000460316.1:n.173+3317_173+3318del
ENST00000533518.5:c.259_260del
NM_001311311.1:c.470_471del	NP_001298240.1:p.Tyr157Ter
NM_024006.4:c.386_387del	NP_076869.1:p.Tyr129Ter
NM_024006.5:c.386_387del	NP_076869.1:p.Tyr129Ter
NM_206824.1:c.276_277del	NP_996560.1:p.Ter93IleextTer14
NM_206824.2:c.276_277del	NP_996560.1:p.Ter93IleextTer14
XM_011545944.1:c.386_387del	XP_011544246.1:p.Tyr129Ter
XM_011545945.1:c.276_277del	XP_011544247.1:p.Ter93IleextTer14
XR_950848.1:n.1174_1175del
NM_024006.6:c.386_387del MANE Select	NP_076869.1:p.Tyr129Ter
NM_001311311.2:c.470_471del	NP_001298240.1:p.Tyr157Ter
NM_206824.3:c.276_277del	NP_996560.1:p.Ter93IleextTer14