Canonical Allele Identifier: CA2806038422
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16198308_16198310del , CM000678.2:g.16198308_16198310del GRCh38
NC_000016.9:g.16292165_16292167del , CM000678.1:g.16292165_16292167del GRCh37
NC_000016.8:g.16199666_16199668del NCBI36
NG_007558.2:g.30162_30164del
NG_007558.3:g.30308_30310del

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1177-128_1177-126del ENSP00000507301.1:n.1177-128_1177-126del
ENST00000622290.5:c.1177-128_1177-126del ENSP00000483331.2:n.1177-128_1177-126del
ENST00000205557.12:c.1177-128_1177-126del MANE Select ENSP00000205557.7:n.1177-128_1177-126del
ENST00000205557.11:c.1177-128_1177-126del ENSP00000205557.7:n.1177-128_1177-126del
ENST00000456970.6:c.1177-128_1177-126del ENSP00000405002.2:n.1177-128_1177-126del
ENST00000574094.5:n.1273-128_1273-126del
ENST00000622290.4:c.1177-128_1177-126del ENSP00000483331.1:n.1177-128_1177-126del
NM_001171.5:c.1177-128_1177-126del NP_001162.4:n.1177-128_1177-126del
XM_011522479.1:c.1177-128_1177-126del XP_011520781.1:n.1177-128_1177-126del
XM_011522480.1:c.835-128_835-126del XP_011520782.1:n.835-128_835-126del
XM_011522481.1:c.835-128_835-126del XP_011520783.1:n.835-128_835-126del
XM_011522482.1:c.1177-128_1177-126del XP_011520784.1:n.1177-128_1177-126del
XR_932836.1:n.1412-128_1412-126del
XR_932837.1:n.1413-128_1413-126del
XR_932838.1:n.1413-128_1413-126del
NM_001351800.1:c.835-128_835-126del NP_001338729.1:n.835-128_835-126del
NR_147784.1:n.1214-128_1214-126del
XM_011522479.2:c.1177-128_1177-126del XP_011520781.1:n.1177-128_1177-126del
XM_011522481.3:c.835-128_835-126del XP_011520783.1:n.835-128_835-126del
XM_011522482.3:c.1177-128_1177-126del XP_011520784.1:n.1177-128_1177-126del
XM_017023212.1:c.1177-128_1177-126del XP_016878701.1:n.1177-128_1177-126del
XM_017023214.1:c.1177-128_1177-126del XP_016878703.1:n.1177-128_1177-126del
XM_024450261.1:c.1213-128_1213-126del XP_024306029.1:n.1213-128_1213-126del
XR_932836.2:n.1358-128_1358-126del
XR_932837.3:n.1358-128_1358-126del
XR_932838.3:n.1358-128_1358-126del
NM_001171.6:c.1177-128_1177-126del MANE Select NP_001162.5:n.1177-128_1177-126del