Canonical Allele Identifier: CA2210143302
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169789_16169805delinsAGTGCGTAGAGGCAGAG , CM000678.2:g.16169789_16169805delinsAGTGCGTAGAGGCAGAG GRCh38
NC_000016.9:g.16263646_16263662delinsAGTGCGTAGAGGCAGAG , CM000678.1:g.16263646_16263662delinsAGTGCGTAGAGGCAGAG GRCh37
NC_000016.8:g.16171147_16171163delinsAGTGCGTAGAGGCAGAG NCBI36
NG_007558.2:g.58667_58683delinsCTCTGCCTCTACGCACT
NG_007558.3:g.58813_58829delinsCTCTGCCTCTACGCACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2836_2852delinsCTCTGCCTCTACGCACT ENSP00000483331.2:p.Leu946=
ENST00000205557.12:c.2836_2852delinsCTCTGCCTCTACGCACT MANE Select ENSP00000205557.7:p.Leu946=
ENST00000205557.11:c.2836_2852delinsCTCTGCCTCTACGCACT ENSP00000205557.7:p.Leu946=
ENST00000456970.6:c.2661_2677delinsCTCTGCCTCTACGCACT ENSP00000405002.2:n.2661_2677delinsCTCTGCCTCTACGCACT
ENST00000622290.4:c.*45_*61delinsCTCTGCCTCTACGCACT ENSP00000483331.1:n.*45_*61delinsCTCTGCCTCTACGCACT
NM_001171.5:c.2836_2852delinsCTCTGCCTCTACGCACT NP_001162.4:p.Leu946=
XM_011522479.1:c.2803_2819delinsCTCTGCCTCTACGCACT XP_011520781.1:p.Leu935=
XM_011522480.1:c.2494_2510delinsCTCTGCCTCTACGCACT XP_011520782.1:p.Leu832=
XM_011522481.1:c.2494_2510delinsCTCTGCCTCTACGCACT XP_011520783.1:p.Leu832=
XR_932836.1:n.3071_3087delinsCTCTGCCTCTACGCACT
XR_932837.1:n.3072_3088delinsCTCTGCCTCTACGCACT
XR_932838.1:n.3072_3088delinsCTCTGCCTCTACGCACT
NM_001351800.1:c.2494_2510delinsCTCTGCCTCTACGCACT NP_001338729.1:p.Leu832=
NR_147784.1:n.2698_2714delinsCTCTGCCTCTACGCACT
XM_011522479.2:c.2803_2819delinsCTCTGCCTCTACGCACT XP_011520781.1:p.Leu935=
XM_011522481.3:c.2494_2510delinsCTCTGCCTCTACGCACT XP_011520783.1:p.Leu832=
XM_017023212.1:c.2668_2684delinsCTCTGCCTCTACGCACT XP_016878701.1:p.Leu890=
XM_017023214.1:c.2836_2852delinsCTCTGCCTCTACGCACT XP_016878703.1:p.Leu946=
XM_024450261.1:c.2872_2888delinsCTCTGCCTCTACGCACT XP_024306029.1:p.Leu958=
XR_932836.2:n.3017_3033delinsCTCTGCCTCTACGCACT
XR_932837.3:n.3017_3033delinsCTCTGCCTCTACGCACT
XR_932838.3:n.3017_3033delinsCTCTGCCTCTACGCACT
NM_001171.6:c.2836_2852delinsCTCTGCCTCTACGCACT MANE Select NP_001162.5:p.Leu946=