Canonical Allele Identifier: CA2210140554

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154731_16154732delinsCG , CM000678.2:g.16154731_16154732delinsCG	GRCh38
NC_000016.9:g.16248588_16248589delinsCG , CM000678.1:g.16248588_16248589delinsCG	GRCh37
NC_000016.8:g.16156089_16156090delinsCG	NCBI36
NG_007558.2:g.73740_73741delinsCG
NG_007558.3:g.73886_73887delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.967_968delinsCG
ENST00000622290.5:c.*276_*277delinsCG	ENSP00000483331.2:n.*276_*277delinsCG
ENST00000205557.12:c.4104_4105delinsCG MANE Select	ENSP00000205557.7:p.Asp1368=
ENST00000640696.1:c.918_919delinsCG	ENSP00000492197.1:p.Asp306=
ENST00000205557.11:c.4104_4105delinsCG	ENSP00000205557.7:p.Asp1368=
ENST00000456970.6:c.3729_3730delinsCG	ENSP00000405002.2:n.3729_3730delinsCG
ENST00000576204.5:n.967_968delinsCG
ENST00000622290.4:c.*1313_*1314delinsCG	ENSP00000483331.1:n.*1313_*1314delinsCG
NM_001171.5:c.4104_4105delinsCG	NP_001162.4:p.Asp1368=
XM_011522479.1:c.4071_4072delinsCG	XP_011520781.1:p.Asp1357=
XM_011522480.1:c.3762_3763delinsCG	XP_011520782.1:p.Asp1254=
XM_011522481.1:c.3762_3763delinsCG	XP_011520783.1:p.Asp1254=
XR_933134.1:n.539-5050_539-5049delinsCG
NM_001351800.1:c.3762_3763delinsCG	NP_001338729.1:p.Asp1254=
NR_147784.1:n.3766_3767delinsCG
XM_011522479.2:c.4071_4072delinsCG	XP_011520781.1:p.Asp1357=
XM_011522481.3:c.3762_3763delinsCG	XP_011520783.1:p.Asp1254=
XM_017023212.1:c.3936_3937delinsCG	XP_016878701.1:p.Asp1312=
XM_024450261.1:c.4140_4141delinsCG	XP_024306029.1:p.Asp1380=
NM_001171.6:c.4104_4105delinsCG MANE Select	NP_001162.5:p.Asp1368=