Canonical Allele Identifier: CA2806038291
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16197978_16197979insGGGAGGGGAAGGGAGGGGGGGGAGAGGGGGGGGG , CM000678.2:g.16197978_16197979insGGGAGGGGAAGGGAGGGGGGGGAGAGGGGGGGGG GRCh38
NC_000016.9:g.16291835_16291836insGGGAGGGGAAGGGAGGGGGGGGAGAGGGGGGGGG , CM000678.1:g.16291835_16291836insGGGAGGGGAAGGGAGGGGGGGGAGAGGGGGGGGG GRCh37
NC_000016.8:g.16199336_16199337insGGGAGGGGAAGGGAGGGGGGGGAGAGGGGGGGGG NCBI36
NG_007558.2:g.30498_30499insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC
NG_007558.3:g.30644_30645insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC ENSP00000507301.1:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCC...
ENST00000622290.5:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC ENSP00000483331.2:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCC...
ENST00000205557.12:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC MANE Select ENSP00000205557.7:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCC...
ENST00000205557.11:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC ENSP00000205557.7:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCC...
ENST00000456970.6:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC ENSP00000405002.2:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCC...
ENST00000574094.5:n.1434+47_1434+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC
ENST00000622290.4:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC ENSP00000483331.1:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCC...
NM_001171.5:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC NP_001162.4:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCC...
XM_011522479.1:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC XP_011520781.1:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCT...
XM_011522480.1:c.996+47_996+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC XP_011520782.1:n.996+47_996+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCC...
XM_011522481.1:c.996+47_996+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC XP_011520783.1:n.996+47_996+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCC...
XM_011522482.1:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC XP_011520784.1:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCT...
XR_932836.1:n.1573+47_1573+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC
XR_932837.1:n.1574+47_1574+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC
XR_932838.1:n.1574+47_1574+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC
NM_001351800.1:c.996+47_996+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC NP_001338729.1:n.996+47_996+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCC...
NR_147784.1:n.1375+47_1375+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC
XM_011522479.2:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC XP_011520781.1:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCT...
XM_011522481.3:c.996+47_996+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC XP_011520783.1:n.996+47_996+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCC...
XM_011522482.3:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC XP_011520784.1:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCT...
XM_017023212.1:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC XP_016878701.1:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCT...
XM_017023214.1:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC XP_016878703.1:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCT...
XM_024450261.1:c.1374+47_1374+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC XP_024306029.1:n.1374+47_1374+48insCCCCTCTCCCCCCCCTCCCTTCCCCT...
XR_932836.2:n.1519+47_1519+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC
XR_932837.3:n.1519+47_1519+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC
XR_932838.3:n.1519+47_1519+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC
NM_001171.6:c.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCCCCCCC MANE Select NP_001162.5:n.1338+47_1338+48insCCCCTCTCCCCCCCCTCCCTTCCCCTCCC...