Canonical Allele Identifier: CA645572487

Gene: ABCC6

Linked Data

• COSMIC: COSM967547

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154984_16154985insG , CM000678.2:g.16154984_16154985insG	GRCh38
NC_000016.9:g.16248841_16248842insG , CM000678.1:g.16248841_16248842insG	GRCh37
NC_000016.8:g.16156342_16156343insG	NCBI36
NG_007558.2:g.73487_73488insC
NG_007558.3:g.73633_73634insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.792_793insC
ENST00000622290.5:c.*101_*102insC	ENSP00000483331.2:n.*101_*102insC
ENST00000205557.12:c.3929_3930insC MANE Select	ENSP00000205557.7:p.Gly1311TrpfsTer10
ENST00000640696.1:c.743_744insC	ENSP00000492197.1:p.Gly249TrpfsTer10
ENST00000205557.11:c.3929_3930insC	ENSP00000205557.7:p.Gly1311TrpfsTer10
ENST00000456970.6:c.3554_3555insC	ENSP00000405002.2:n.3554_3555insC
ENST00000576204.5:n.792_793insC
ENST00000622290.4:c.*1138_*1139insC	ENSP00000483331.1:n.*1138_*1139insC
NM_001171.5:c.3929_3930insC	NP_001162.4:p.Gly1311TrpfsTer10
XM_011522479.1:c.3896_3897insC	XP_011520781.1:p.Gly1300TrpfsTer10
XM_011522480.1:c.3587_3588insC	XP_011520782.1:p.Gly1197TrpfsTer10
XM_011522481.1:c.3587_3588insC	XP_011520783.1:p.Gly1197TrpfsTer10
XR_932836.1:n.4227_4228insC
XR_932837.1:n.3965_3966insC
XR_932838.1:n.4028_4029insC
XR_933134.1:n.539-4797_539-4796insG
NM_001351800.1:c.3587_3588insC	NP_001338729.1:p.Gly1197TrpfsTer10
NR_147784.1:n.3591_3592insC
XM_011522479.2:c.3896_3897insC	XP_011520781.1:p.Gly1300TrpfsTer10
XM_011522481.3:c.3587_3588insC	XP_011520783.1:p.Gly1197TrpfsTer10
XM_017023212.1:c.3761_3762insC	XP_016878701.1:p.Gly1255TrpfsTer10
XM_024450261.1:c.3965_3966insC	XP_024306029.1:p.Gly1323TrpfsTer10
XR_932836.2:n.4173_4174insC
XR_932837.3:n.3910_3911insC
XR_932838.3:n.3973_3974insC
NM_001171.6:c.3929_3930insC MANE Select	NP_001162.5:p.Gly1311TrpfsTer10