Canonical Allele Identifier: CA2580090802
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433853
ClinVar RCV Id: RCV003132723

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155032_16155033del , CM000678.2:g.16155032_16155033del GRCh38
NC_000016.9:g.16248889_16248890del , CM000678.1:g.16248889_16248890del GRCh37
NC_000016.8:g.16156390_16156391del NCBI36
NG_007558.2:g.73439_73440del
NG_007558.3:g.73585_73586del

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.744_745del
ENST00000622290.5:c.*55-2_*55-1del ENSP00000483331.2:n.*55-2_*55-1del
ENST00000205557.12:c.3883-2_3883-1del MANE Select ENSP00000205557.7:n.3883-2_3883-1del
ENST00000640696.1:c.697-2_697-1del ENSP00000492197.1:n.697-2_697-1del
ENST00000205557.11:c.3883-2_3883-1del ENSP00000205557.7:n.3883-2_3883-1del
ENST00000456970.6:c.3508-2_3508-1del ENSP00000405002.2:n.3508-2_3508-1del
ENST00000576204.5:n.744_745del
ENST00000622290.4:c.*1092-2_*1092-1del ENSP00000483331.1:n.*1092-2_*1092-1del
NM_001171.5:c.3883-2_3883-1del NP_001162.4:n.3883-2_3883-1del
XM_011522479.1:c.3850-2_3850-1del XP_011520781.1:n.3850-2_3850-1del
XM_011522480.1:c.3541-2_3541-1del XP_011520782.1:n.3541-2_3541-1del
XM_011522481.1:c.3541-2_3541-1del XP_011520783.1:n.3541-2_3541-1del
XR_932836.1:n.4181-2_4181-1del
XR_932837.1:n.3919-2_3919-1del
XR_932838.1:n.3982-2_3982-1del
XR_933134.1:n.539-4749_539-4748del
NM_001351800.1:c.3541-2_3541-1del NP_001338729.1:n.3541-2_3541-1del
NR_147784.1:n.3545-2_3545-1del
XM_011522479.2:c.3850-2_3850-1del XP_011520781.1:n.3850-2_3850-1del
XM_011522481.3:c.3541-2_3541-1del XP_011520783.1:n.3541-2_3541-1del
XM_017023212.1:c.3715-2_3715-1del XP_016878701.1:n.3715-2_3715-1del
XM_024450261.1:c.3919-2_3919-1del XP_024306029.1:n.3919-2_3919-1del
XR_932836.2:n.4127-2_4127-1del
XR_932837.3:n.3864-2_3864-1del
XR_932838.3:n.3927-2_3927-1del
NM_001171.6:c.3883-2_3883-1del MANE Select NP_001162.5:n.3883-2_3883-1del