Canonical Allele Identifier: CA2575924596
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154536del , CM000678.2:g.16154536del GRCh38
NC_000016.9:g.16248393del , CM000678.1:g.16248393del GRCh37
NC_000016.8:g.16155894del NCBI36
NG_007558.2:g.73936del
NG_007558.3:g.74082del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*380+92del ENSP00000483331.2:n.*380+92del
ENST00000205557.12:c.4208+92del MANE Select ENSP00000205557.7:n.4208+92del
ENST00000640696.1:c.1022+92del ENSP00000492197.1:n.1022+92del
ENST00000205557.11:c.4208+92del ENSP00000205557.7:n.4208+92del
ENST00000456970.6:c.3833+92del ENSP00000405002.2:n.3833+92del
ENST00000576204.5:n.1071+92del
ENST00000622290.4:c.*1417+92del ENSP00000483331.1:n.*1417+92del
NM_001171.5:c.4208+92del NP_001162.4:n.4208+92del
XM_011522479.1:c.4175+92del XP_011520781.1:n.4175+92del
XM_011522480.1:c.3866+92del XP_011520782.1:n.3866+92del
XM_011522481.1:c.3866+92del XP_011520783.1:n.3866+92del
XR_933134.1:n.539-5245del
NM_001351800.1:c.3866+92del NP_001338729.1:n.3866+92del
NR_147784.1:n.3870+92del
XM_011522479.2:c.4175+92del XP_011520781.1:n.4175+92del
XM_011522481.3:c.3866+92del XP_011520783.1:n.3866+92del
XM_017023212.1:c.4040+92del XP_016878701.1:n.4040+92del
XM_024450261.1:c.4244+92del XP_024306029.1:n.4244+92del
NM_001171.6:c.4208+92del MANE Select NP_001162.5:n.4208+92del