Canonical Allele Identifier: CA2631961151
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16149800_16149801del , CM000678.2:g.16149800_16149801del GRCh38
NC_000016.9:g.16243657_16243658del , CM000678.1:g.16243657_16243658del GRCh37
NC_000016.8:g.16151158_16151159del NCBI36
NG_007558.2:g.78672_78673del
NG_007558.3:g.78818_78819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*1017_*1018del ENSP00000483331.2:n.*1017_*1018del
ENST00000205557.12:c.*333_*334del MANE Select ENSP00000205557.7:n.*333_*334del
ENST00000640696.1:c.1659_1660del ENSP00000492197.1:n.1659_1660del
ENST00000205557.11:c.*333_*334del ENSP00000205557.7:n.*333_*334del
ENST00000576204.5:n.1708_1709del
ENST00000622290.4:c.*2054_*2055del ENSP00000483331.1:n.*2054_*2055del
NM_001171.5:c.*333_*334del NP_001162.4:n.*333_*334del
XM_011522479.1:c.*333_*334del XP_011520781.1:n.*333_*334del
XM_011522480.1:c.*333_*334del XP_011520782.1:n.*333_*334del
XM_011522481.1:c.*333_*334del XP_011520783.1:n.*333_*334del
XR_933134.1:n.538+5510_538+5511del
NM_001351800.1:c.*333_*334del NP_001338729.1:n.*333_*334del
NR_147784.1:n.4507_4508del
XM_011522479.2:c.*333_*334del XP_011520781.1:n.*333_*334del
XM_011522481.3:c.*333_*334del XP_011520783.1:n.*333_*334del
XM_017023212.1:c.*333_*334del XP_016878701.1:n.*333_*334del
XM_024450261.1:c.*333_*334del XP_024306029.1:n.*333_*334del
NM_001171.6:c.*333_*334del MANE Select NP_001162.5:n.*333_*334del