Canonical Allele Identifier: CA2806038106
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155212_16155215del , CM000678.2:g.16155212_16155215del GRCh38
NC_000016.9:g.16249069_16249072del , CM000678.1:g.16249069_16249072del GRCh37
NC_000016.8:g.16156570_16156573del NCBI36
NG_007558.2:g.73258_73261del
NG_007558.3:g.73404_73407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.563_566del
ENST00000622290.5:c.*55-183_*55-180del ENSP00000483331.2:n.*55-183_*55-180del
ENST00000205557.12:c.3883-183_3883-180del MANE Select ENSP00000205557.7:n.3883-183_3883-180del
ENST00000640696.1:c.697-183_697-180del ENSP00000492197.1:n.697-183_697-180del
ENST00000205557.11:c.3883-183_3883-180del ENSP00000205557.7:n.3883-183_3883-180del
ENST00000456970.6:c.3508-183_3508-180del ENSP00000405002.2:n.3508-183_3508-180del
ENST00000576204.5:n.563_566del
ENST00000622290.4:c.*1092-183_*1092-180del ENSP00000483331.1:n.*1092-183_*1092-180del
NM_001171.5:c.3883-183_3883-180del NP_001162.4:n.3883-183_3883-180del
XM_011522479.1:c.3850-183_3850-180del XP_011520781.1:n.3850-183_3850-180del
XM_011522480.1:c.3541-183_3541-180del XP_011520782.1:n.3541-183_3541-180del
XM_011522481.1:c.3541-183_3541-180del XP_011520783.1:n.3541-183_3541-180del
XR_932836.1:n.4181-183_4181-180del
XR_932837.1:n.3919-183_3919-180del
XR_932838.1:n.3982-183_3982-180del
XR_933134.1:n.539-4569_539-4566del
NM_001351800.1:c.3541-183_3541-180del NP_001338729.1:n.3541-183_3541-180del
NR_147784.1:n.3545-183_3545-180del
XM_011522479.2:c.3850-183_3850-180del XP_011520781.1:n.3850-183_3850-180del
XM_011522481.3:c.3541-183_3541-180del XP_011520783.1:n.3541-183_3541-180del
XM_017023212.1:c.3715-183_3715-180del XP_016878701.1:n.3715-183_3715-180del
XM_024450261.1:c.3919-183_3919-180del XP_024306029.1:n.3919-183_3919-180del
XR_932836.2:n.4127-183_4127-180del
XR_932837.3:n.3864-183_3864-180del
XR_932838.3:n.3927-183_3927-180del
NM_001171.6:c.3883-183_3883-180del MANE Select NP_001162.5:n.3883-183_3883-180del