Canonical Allele Identifier: CA2631961040
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16149695_16149698del , CM000678.2:g.16149695_16149698del GRCh38
NC_000016.9:g.16243552_16243555del , CM000678.1:g.16243552_16243555del GRCh37
NC_000016.8:g.16151053_16151056del NCBI36
NG_007558.2:g.78775_78778del
NG_007558.3:g.78921_78924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*1120_*1123del ENSP00000483331.2:n.*1120_*1123del
ENST00000205557.12:c.*436_*439del MANE Select ENSP00000205557.7:n.*436_*439del
ENST00000640696.1:c.1762_1765del ENSP00000492197.1:n.1762_1765del
ENST00000205557.11:c.*436_*439del ENSP00000205557.7:n.*436_*439del
ENST00000576204.5:n.1811_1814del
ENST00000622290.4:c.*2157_*2160del ENSP00000483331.1:n.*2157_*2160del
NM_001171.5:c.*436_*439del NP_001162.4:n.*436_*439del
XM_011522479.1:c.*436_*439del XP_011520781.1:n.*436_*439del
XM_011522480.1:c.*436_*439del XP_011520782.1:n.*436_*439del
XM_011522481.1:c.*436_*439del XP_011520783.1:n.*436_*439del
XR_933134.1:n.538+5405_538+5408del
NM_001351800.1:c.*436_*439del NP_001338729.1:n.*436_*439del
NR_147784.1:n.4610_4613del
XM_011522479.2:c.*436_*439del XP_011520781.1:n.*436_*439del
XM_011522481.3:c.*436_*439del XP_011520783.1:n.*436_*439del
XM_017023212.1:c.*436_*439del XP_016878701.1:n.*436_*439del
XM_024450261.1:c.*436_*439del XP_024306029.1:n.*436_*439del
NM_001171.6:c.*436_*439del MANE Select NP_001162.5:n.*436_*439del