Canonical Allele Identifier: CA2210133326
Gene: ABCC6 HGNC NCBI

Linked Data

dbSNP Id: rs2046337202

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16149700_16149702del , CM000678.2:g.16149700_16149702del GRCh38
NC_000016.9:g.16243557_16243559del , CM000678.1:g.16243557_16243559del GRCh37
NC_000016.8:g.16151058_16151060del NCBI36
NG_007558.2:g.78774_78776del
NG_007558.3:g.78920_78922del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*1119_*1121del ENSP00000483331.2:n.*1119_*1121del
ENST00000205557.12:c.*435_*437del MANE Select ENSP00000205557.7:n.*435_*437del
ENST00000640696.1:c.1761_1763del ENSP00000492197.1:n.1761_1763del
ENST00000205557.11:c.*435_*437del ENSP00000205557.7:n.*435_*437del
ENST00000576204.5:n.1810_1812del
ENST00000622290.4:c.*2156_*2158del ENSP00000483331.1:n.*2156_*2158del
NM_001171.5:c.*435_*437del NP_001162.4:n.*435_*437del
XM_011522479.1:c.*435_*437del XP_011520781.1:n.*435_*437del
XM_011522480.1:c.*435_*437del XP_011520782.1:n.*435_*437del
XM_011522481.1:c.*435_*437del XP_011520783.1:n.*435_*437del
XR_933134.1:n.538+5410_538+5412del
NM_001351800.1:c.*435_*437del NP_001338729.1:n.*435_*437del
NR_147784.1:n.4609_4611del
XM_011522479.2:c.*435_*437del XP_011520781.1:n.*435_*437del
XM_011522481.3:c.*435_*437del XP_011520783.1:n.*435_*437del
XM_017023212.1:c.*435_*437del XP_016878701.1:n.*435_*437del
XM_024450261.1:c.*435_*437del XP_024306029.1:n.*435_*437del
NM_001171.6:c.*435_*437del MANE Select NP_001162.5:n.*435_*437del