Canonical Allele Identifier: CA2806038019
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155166_16155167del , CM000678.2:g.16155166_16155167del GRCh38
NC_000016.9:g.16249023_16249024del , CM000678.1:g.16249023_16249024del GRCh37
NC_000016.8:g.16156524_16156525del NCBI36
NG_007558.2:g.73305_73306del
NG_007558.3:g.73451_73452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.610_611del
ENST00000622290.5:c.*55-136_*55-135del ENSP00000483331.2:n.*55-136_*55-135del
ENST00000205557.12:c.3883-136_3883-135del MANE Select ENSP00000205557.7:n.3883-136_3883-135del
ENST00000640696.1:c.697-136_697-135del ENSP00000492197.1:n.697-136_697-135del
ENST00000205557.11:c.3883-136_3883-135del ENSP00000205557.7:n.3883-136_3883-135del
ENST00000456970.6:c.3508-136_3508-135del ENSP00000405002.2:n.3508-136_3508-135del
ENST00000576204.5:n.610_611del
ENST00000622290.4:c.*1092-136_*1092-135del ENSP00000483331.1:n.*1092-136_*1092-135del
NM_001171.5:c.3883-136_3883-135del NP_001162.4:n.3883-136_3883-135del
XM_011522479.1:c.3850-136_3850-135del XP_011520781.1:n.3850-136_3850-135del
XM_011522480.1:c.3541-136_3541-135del XP_011520782.1:n.3541-136_3541-135del
XM_011522481.1:c.3541-136_3541-135del XP_011520783.1:n.3541-136_3541-135del
XR_932836.1:n.4181-136_4181-135del
XR_932837.1:n.3919-136_3919-135del
XR_932838.1:n.3982-136_3982-135del
XR_933134.1:n.539-4615_539-4614del
NM_001351800.1:c.3541-136_3541-135del NP_001338729.1:n.3541-136_3541-135del
NR_147784.1:n.3545-136_3545-135del
XM_011522479.2:c.3850-136_3850-135del XP_011520781.1:n.3850-136_3850-135del
XM_011522481.3:c.3541-136_3541-135del XP_011520783.1:n.3541-136_3541-135del
XM_017023212.1:c.3715-136_3715-135del XP_016878701.1:n.3715-136_3715-135del
XM_024450261.1:c.3919-136_3919-135del XP_024306029.1:n.3919-136_3919-135del
XR_932836.2:n.4127-136_4127-135del
XR_932837.3:n.3864-136_3864-135del
XR_932838.3:n.3927-136_3927-135del
NM_001171.6:c.3883-136_3883-135del MANE Select NP_001162.5:n.3883-136_3883-135del