Canonical Allele Identifier: CA2806038096
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155205_16155206del , CM000678.2:g.16155205_16155206del GRCh38
NC_000016.9:g.16249062_16249063del , CM000678.1:g.16249062_16249063del GRCh37
NC_000016.8:g.16156563_16156564del NCBI36
NG_007558.2:g.73266_73267del
NG_007558.3:g.73412_73413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.571_572del
ENST00000622290.5:c.*55-175_*55-174del ENSP00000483331.2:n.*55-175_*55-174del
ENST00000205557.12:c.3883-175_3883-174del MANE Select ENSP00000205557.7:n.3883-175_3883-174del
ENST00000640696.1:c.697-175_697-174del ENSP00000492197.1:n.697-175_697-174del
ENST00000205557.11:c.3883-175_3883-174del ENSP00000205557.7:n.3883-175_3883-174del
ENST00000456970.6:c.3508-175_3508-174del ENSP00000405002.2:n.3508-175_3508-174del
ENST00000576204.5:n.571_572del
ENST00000622290.4:c.*1092-175_*1092-174del ENSP00000483331.1:n.*1092-175_*1092-174del
NM_001171.5:c.3883-175_3883-174del NP_001162.4:n.3883-175_3883-174del
XM_011522479.1:c.3850-175_3850-174del XP_011520781.1:n.3850-175_3850-174del
XM_011522480.1:c.3541-175_3541-174del XP_011520782.1:n.3541-175_3541-174del
XM_011522481.1:c.3541-175_3541-174del XP_011520783.1:n.3541-175_3541-174del
XR_932836.1:n.4181-175_4181-174del
XR_932837.1:n.3919-175_3919-174del
XR_932838.1:n.3982-175_3982-174del
XR_933134.1:n.539-4576_539-4575del
NM_001351800.1:c.3541-175_3541-174del NP_001338729.1:n.3541-175_3541-174del
NR_147784.1:n.3545-175_3545-174del
XM_011522479.2:c.3850-175_3850-174del XP_011520781.1:n.3850-175_3850-174del
XM_011522481.3:c.3541-175_3541-174del XP_011520783.1:n.3541-175_3541-174del
XM_017023212.1:c.3715-175_3715-174del XP_016878701.1:n.3715-175_3715-174del
XM_024450261.1:c.3919-175_3919-174del XP_024306029.1:n.3919-175_3919-174del
XR_932836.2:n.4127-175_4127-174del
XR_932837.3:n.3864-175_3864-174del
XR_932838.3:n.3927-175_3927-174del
NM_001171.6:c.3883-175_3883-174del MANE Select NP_001162.5:n.3883-175_3883-174del