Canonical Allele Identifier: CA2210143216
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169623_16169626delinsTGAG , CM000678.2:g.16169623_16169626delinsTGAG GRCh38
NC_000016.9:g.16263480_16263483delinsTGAG , CM000678.1:g.16263480_16263483delinsTGAG GRCh37
NC_000016.8:g.16170981_16170984delinsTGAG NCBI36
NG_007558.2:g.58846_58849delinsCTCA
NG_007558.3:g.58992_58995delinsCTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2995+20_2995+23delinsCTCA ENSP00000483331.2:n.2995+20_2995+23delinsCTCA
ENST00000205557.12:c.2995+20_2995+23delinsCTCA MANE Select ENSP00000205557.7:n.2995+20_2995+23delinsCTCA
ENST00000205557.11:c.2995+20_2995+23delinsCTCA ENSP00000205557.7:n.2995+20_2995+23delinsCTCA
ENST00000456970.6:c.2820+20_2820+23delinsCTCA ENSP00000405002.2:n.2820+20_2820+23delinsCTCA
ENST00000622290.4:c.*204+20_*204+23delinsCTCA ENSP00000483331.1:n.*204+20_*204+23delinsCTCA
NM_001171.5:c.2995+20_2995+23delinsCTCA NP_001162.4:n.2995+20_2995+23delinsCTCA
XM_011522479.1:c.2962+20_2962+23delinsCTCA XP_011520781.1:n.2962+20_2962+23delinsCTCA
XM_011522480.1:c.2653+20_2653+23delinsCTCA XP_011520782.1:n.2653+20_2653+23delinsCTCA
XM_011522481.1:c.2653+20_2653+23delinsCTCA XP_011520783.1:n.2653+20_2653+23delinsCTCA
XR_932836.1:n.3230+20_3230+23delinsCTCA
XR_932837.1:n.3231+20_3231+23delinsCTCA
XR_932838.1:n.3231+20_3231+23delinsCTCA
NM_001351800.1:c.2653+20_2653+23delinsCTCA NP_001338729.1:n.2653+20_2653+23delinsCTCA
NR_147784.1:n.2857+20_2857+23delinsCTCA
XM_011522479.2:c.2962+20_2962+23delinsCTCA XP_011520781.1:n.2962+20_2962+23delinsCTCA
XM_011522481.3:c.2653+20_2653+23delinsCTCA XP_011520783.1:n.2653+20_2653+23delinsCTCA
XM_017023212.1:c.2827+20_2827+23delinsCTCA XP_016878701.1:n.2827+20_2827+23delinsCTCA
XM_017023214.1:c.2995+20_2995+23delinsCTCA XP_016878703.1:n.2995+20_2995+23delinsCTCA
XM_024450261.1:c.3031+20_3031+23delinsCTCA XP_024306029.1:n.3031+20_3031+23delinsCTCA
XR_932836.2:n.3176+20_3176+23delinsCTCA
XR_932837.3:n.3176+20_3176+23delinsCTCA
XR_932838.3:n.3176+20_3176+23delinsCTCA
NM_001171.6:c.2995+20_2995+23delinsCTCA MANE Select NP_001162.5:n.2995+20_2995+23delinsCTCA