Canonical Allele Identifier: CA2806038261
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16197966_16197967insGGGGGGGGAAGGGGGGGGGGGG , CM000678.2:g.16197966_16197967insGGGGGGGGAAGGGGGGGGGGGG GRCh38
NC_000016.9:g.16291823_16291824insGGGGGGGGAAGGGGGGGGGGGG , CM000678.1:g.16291823_16291824insGGGGGGGGAAGGGGGGGGGGGG GRCh37
NC_000016.8:g.16199324_16199325insGGGGGGGGAAGGGGGGGGGGGG NCBI36
NG_007558.2:g.30510_30511insCCCCCCCTTCCCCCCCCCCCCC
NG_007558.3:g.30656_30657insCCCCCCCTTCCCCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC ENSP00000507301.1:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
ENST00000622290.5:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC ENSP00000483331.2:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
ENST00000205557.12:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC MANE Select ENSP00000205557.7:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
ENST00000205557.11:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC ENSP00000205557.7:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
ENST00000456970.6:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC ENSP00000405002.2:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
ENST00000574094.5:n.1434+59_1434+60insCCCCCCCTTCCCCCCCCCCCCC
ENST00000622290.4:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC ENSP00000483331.1:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
NM_001171.5:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC NP_001162.4:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
XM_011522479.1:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC XP_011520781.1:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
XM_011522480.1:c.996+59_996+60insCCCCCCCTTCCCCCCCCCCCCC XP_011520782.1:n.996+59_996+60insCCCCCCCTTCCCCCCCCCCCCC
XM_011522481.1:c.996+59_996+60insCCCCCCCTTCCCCCCCCCCCCC XP_011520783.1:n.996+59_996+60insCCCCCCCTTCCCCCCCCCCCCC
XM_011522482.1:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC XP_011520784.1:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
XR_932836.1:n.1573+59_1573+60insCCCCCCCTTCCCCCCCCCCCCC
XR_932837.1:n.1574+59_1574+60insCCCCCCCTTCCCCCCCCCCCCC
XR_932838.1:n.1574+59_1574+60insCCCCCCCTTCCCCCCCCCCCCC
NM_001351800.1:c.996+59_996+60insCCCCCCCTTCCCCCCCCCCCCC NP_001338729.1:n.996+59_996+60insCCCCCCCTTCCCCCCCCCCCCC
NR_147784.1:n.1375+59_1375+60insCCCCCCCTTCCCCCCCCCCCCC
XM_011522479.2:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC XP_011520781.1:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
XM_011522481.3:c.996+59_996+60insCCCCCCCTTCCCCCCCCCCCCC XP_011520783.1:n.996+59_996+60insCCCCCCCTTCCCCCCCCCCCCC
XM_011522482.3:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC XP_011520784.1:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
XM_017023212.1:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC XP_016878701.1:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
XM_017023214.1:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC XP_016878703.1:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC
XM_024450261.1:c.1374+59_1374+60insCCCCCCCTTCCCCCCCCCCCCC XP_024306029.1:n.1374+59_1374+60insCCCCCCCTTCCCCCCCCCCCCC
XR_932836.2:n.1519+59_1519+60insCCCCCCCTTCCCCCCCCCCCCC
XR_932837.3:n.1519+59_1519+60insCCCCCCCTTCCCCCCCCCCCCC
XR_932838.3:n.1519+59_1519+60insCCCCCCCTTCCCCCCCCCCCCC
NM_001171.6:c.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC MANE Select NP_001162.5:n.1338+59_1338+60insCCCCCCCTTCCCCCCCCCCCCC