Canonical Allele Identifier: CA2631963780

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150896-A-ATGTGTGGGGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150896_16150897insTGTGTGGGGATG , CM000678.2:g.16150896_16150897insTGTGTGGGGATG	GRCh38
NC_000016.9:g.16244753_16244754insTGTGTGGGGATG , CM000678.1:g.16244753_16244754insTGTGTGGGGATG	GRCh37
NC_000016.8:g.16152254_16152255insTGTGTGGGGATG	NCBI36
NG_007558.2:g.77575_77576insCATCCCCACACA
NG_007558.3:g.77721_77722insCATCCCCACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*381-125_*381-124insCATCCCCACACA	ENSP00000483331.2:n.*381-125_*381-124insCATCCCCACACA
ENST00000205557.12:c.4209-125_4209-124insCATCCCCACACA MANE Select	ENSP00000205557.7:n.4209-125_4209-124insCATCCCCACACA
ENST00000640696.1:c.1023-125_1023-124insCATCCCCACACA	ENSP00000492197.1:n.1023-125_1023-124insCATCCCCACACA
ENST00000205557.11:c.4209-125_4209-124insCATCCCCACACA	ENSP00000205557.7:n.4209-125_4209-124insCATCCCCACACA
ENST00000456970.6:c.3834-125_3834-124insCATCCCCACACA	ENSP00000405002.2:n.3834-125_3834-124insCATCCCCACACA
ENST00000576204.5:n.1072-125_1072-124insCATCCCCACACA
ENST00000622290.4:c.*1418-125_*1418-124insCATCCCCACACA	ENSP00000483331.1:n.*1418-125_*1418-124insCATCCCCACACA
NM_001171.5:c.4209-125_4209-124insCATCCCCACACA	NP_001162.4:n.4209-125_4209-124insCATCCCCACACA
XM_011522479.1:c.4176-125_4176-124insCATCCCCACACA	XP_011520781.1:n.4176-125_4176-124insCATCCCCACACA
XM_011522480.1:c.3867-125_3867-124insCATCCCCACACA	XP_011520782.1:n.3867-125_3867-124insCATCCCCACACA
XM_011522481.1:c.3867-125_3867-124insCATCCCCACACA	XP_011520783.1:n.3867-125_3867-124insCATCCCCACACA
XR_933134.1:n.538+6606_538+6607insTGTGTGGGGATG
NM_001351800.1:c.3867-125_3867-124insCATCCCCACACA	NP_001338729.1:n.3867-125_3867-124insCATCCCCACACA
NR_147784.1:n.3871-125_3871-124insCATCCCCACACA
XM_011522479.2:c.4176-125_4176-124insCATCCCCACACA	XP_011520781.1:n.4176-125_4176-124insCATCCCCACACA
XM_011522481.3:c.3867-125_3867-124insCATCCCCACACA	XP_011520783.1:n.3867-125_3867-124insCATCCCCACACA
XM_017023212.1:c.4041-125_4041-124insCATCCCCACACA	XP_016878701.1:n.4041-125_4041-124insCATCCCCACACA
XM_024450261.1:c.4245-125_4245-124insCATCCCCACACA	XP_024306029.1:n.4245-125_4245-124insCATCCCCACACA
NM_001171.6:c.4209-125_4209-124insCATCCCCACACA MANE Select	NP_001162.5:n.4209-125_4209-124insCATCCCCACACA