Canonical Allele Identifier: CA2631958736
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154609_16154611del , CM000678.2:g.16154609_16154611del GRCh38
NC_000016.9:g.16248466_16248468del , CM000678.1:g.16248466_16248468del GRCh37
NC_000016.8:g.16155967_16155969del NCBI36
NG_007558.2:g.73861_73863del
NG_007558.3:g.74007_74009del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*380+17_*380+19del ENSP00000483331.2:n.*380+17_*380+19del
ENST00000205557.12:c.4208+17_4208+19del MANE Select ENSP00000205557.7:n.4208+17_4208+19del
ENST00000640696.1:c.1022+17_1022+19del ENSP00000492197.1:n.1022+17_1022+19del
ENST00000205557.11:c.4208+17_4208+19del ENSP00000205557.7:n.4208+17_4208+19del
ENST00000456970.6:c.3833+17_3833+19del ENSP00000405002.2:n.3833+17_3833+19del
ENST00000576204.5:n.1071+17_1071+19del
ENST00000622290.4:c.*1417+17_*1417+19del ENSP00000483331.1:n.*1417+17_*1417+19del
NM_001171.5:c.4208+17_4208+19del NP_001162.4:n.4208+17_4208+19del
XM_011522479.1:c.4175+17_4175+19del XP_011520781.1:n.4175+17_4175+19del
XM_011522480.1:c.3866+17_3866+19del XP_011520782.1:n.3866+17_3866+19del
XM_011522481.1:c.3866+17_3866+19del XP_011520783.1:n.3866+17_3866+19del
XR_933134.1:n.539-5172_539-5170del
NM_001351800.1:c.3866+17_3866+19del NP_001338729.1:n.3866+17_3866+19del
NR_147784.1:n.3870+17_3870+19del
XM_011522479.2:c.4175+17_4175+19del XP_011520781.1:n.4175+17_4175+19del
XM_011522481.3:c.3866+17_3866+19del XP_011520783.1:n.3866+17_3866+19del
XM_017023212.1:c.4040+17_4040+19del XP_016878701.1:n.4040+17_4040+19del
XM_024450261.1:c.4244+17_4244+19del XP_024306029.1:n.4244+17_4244+19del
NM_001171.6:c.4208+17_4208+19del MANE Select NP_001162.5:n.4208+17_4208+19del