Canonical Allele Identifier: CA2210135530

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046366475
• gnomAD v4: 16-16150819-ATGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150822_16150824del , CM000678.2:g.16150822_16150824del	GRCh38
NC_000016.9:g.16244679_16244681del , CM000678.1:g.16244679_16244681del	GRCh37
NC_000016.8:g.16152180_16152182del	NCBI36
NG_007558.2:g.77650_77652del
NG_007558.3:g.77796_77798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*381-50_*381-48del	ENSP00000483331.2:n.*381-50_*381-48del
ENST00000205557.12:c.4209-50_4209-48del MANE Select	ENSP00000205557.7:n.4209-50_4209-48del
ENST00000640696.1:c.1023-50_1023-48del	ENSP00000492197.1:n.1023-50_1023-48del
ENST00000205557.11:c.4209-50_4209-48del	ENSP00000205557.7:n.4209-50_4209-48del
ENST00000456970.6:c.3834-50_3834-48del	ENSP00000405002.2:n.3834-50_3834-48del
ENST00000576204.5:n.1072-50_1072-48del
ENST00000622290.4:c.*1418-50_*1418-48del	ENSP00000483331.1:n.*1418-50_*1418-48del
NM_001171.5:c.4209-50_4209-48del	NP_001162.4:n.4209-50_4209-48del
XM_011522479.1:c.4176-50_4176-48del	XP_011520781.1:n.4176-50_4176-48del
XM_011522480.1:c.3867-50_3867-48del	XP_011520782.1:n.3867-50_3867-48del
XM_011522481.1:c.3867-50_3867-48del	XP_011520783.1:n.3867-50_3867-48del
XR_933134.1:n.538+6532_538+6534del
NM_001351800.1:c.3867-50_3867-48del	NP_001338729.1:n.3867-50_3867-48del
NR_147784.1:n.3871-50_3871-48del
XM_011522479.2:c.4176-50_4176-48del	XP_011520781.1:n.4176-50_4176-48del
XM_011522481.3:c.3867-50_3867-48del	XP_011520783.1:n.3867-50_3867-48del
XM_017023212.1:c.4041-50_4041-48del	XP_016878701.1:n.4041-50_4041-48del
XM_024450261.1:c.4245-50_4245-48del	XP_024306029.1:n.4245-50_4245-48del
NM_001171.6:c.4209-50_4209-48del MANE Select	NP_001162.5:n.4209-50_4209-48del