Canonical Allele Identifier: CA2806038047
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155176_16155177del , CM000678.2:g.16155176_16155177del GRCh38
NC_000016.9:g.16249033_16249034del , CM000678.1:g.16249033_16249034del GRCh37
NC_000016.8:g.16156534_16156535del NCBI36
NG_007558.2:g.73295_73296del
NG_007558.3:g.73441_73442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.600_601del
ENST00000622290.5:c.*55-146_*55-145del ENSP00000483331.2:n.*55-146_*55-145del
ENST00000205557.12:c.3883-146_3883-145del MANE Select ENSP00000205557.7:n.3883-146_3883-145del
ENST00000640696.1:c.697-146_697-145del ENSP00000492197.1:n.697-146_697-145del
ENST00000205557.11:c.3883-146_3883-145del ENSP00000205557.7:n.3883-146_3883-145del
ENST00000456970.6:c.3508-146_3508-145del ENSP00000405002.2:n.3508-146_3508-145del
ENST00000576204.5:n.600_601del
ENST00000622290.4:c.*1092-146_*1092-145del ENSP00000483331.1:n.*1092-146_*1092-145del
NM_001171.5:c.3883-146_3883-145del NP_001162.4:n.3883-146_3883-145del
XM_011522479.1:c.3850-146_3850-145del XP_011520781.1:n.3850-146_3850-145del
XM_011522480.1:c.3541-146_3541-145del XP_011520782.1:n.3541-146_3541-145del
XM_011522481.1:c.3541-146_3541-145del XP_011520783.1:n.3541-146_3541-145del
XR_932836.1:n.4181-146_4181-145del
XR_932837.1:n.3919-146_3919-145del
XR_932838.1:n.3982-146_3982-145del
XR_933134.1:n.539-4605_539-4604del
NM_001351800.1:c.3541-146_3541-145del NP_001338729.1:n.3541-146_3541-145del
NR_147784.1:n.3545-146_3545-145del
XM_011522479.2:c.3850-146_3850-145del XP_011520781.1:n.3850-146_3850-145del
XM_011522481.3:c.3541-146_3541-145del XP_011520783.1:n.3541-146_3541-145del
XM_017023212.1:c.3715-146_3715-145del XP_016878701.1:n.3715-146_3715-145del
XM_024450261.1:c.3919-146_3919-145del XP_024306029.1:n.3919-146_3919-145del
XR_932836.2:n.4127-146_4127-145del
XR_932837.3:n.3864-146_3864-145del
XR_932838.3:n.3927-146_3927-145del
NM_001171.6:c.3883-146_3883-145del MANE Select NP_001162.5:n.3883-146_3883-145del