Canonical Allele Identifier: CA2210137201

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163260_16163262delinsCAG , CM000678.2:g.16163260_16163262delinsCAG	GRCh38
NC_000016.9:g.16257117_16257119delinsCAG , CM000678.1:g.16257117_16257119delinsCAG	GRCh37
NC_000016.8:g.16164618_16164620delinsCAG	NCBI36
NG_007558.2:g.65210_65212delinsCTG
NG_007558.3:g.65356_65358delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3307-70_3307-68delinsCTG	ENSP00000483331.2:n.3307-70_3307-68delinsCTG
ENST00000205557.12:c.3307-70_3307-68delinsCTG MANE Select	ENSP00000205557.7:n.3307-70_3307-68delinsCTG
ENST00000640696.1:c.321-1698_321-1696delinsCTG	ENSP00000492197.1:n.321-1698_321-1696delinsCTG
ENST00000205557.11:c.3307-70_3307-68delinsCTG	ENSP00000205557.7:n.3307-70_3307-68delinsCTG
ENST00000456970.6:c.3132-1698_3132-1696delinsCTG	ENSP00000405002.2:n.3132-1698_3132-1696delinsCTG
ENST00000622290.4:c.*516-70_*516-68delinsCTG	ENSP00000483331.1:n.*516-70_*516-68delinsCTG
NM_001171.5:c.3307-70_3307-68delinsCTG	NP_001162.4:n.3307-70_3307-68delinsCTG
XM_011522479.1:c.3274-70_3274-68delinsCTG	XP_011520781.1:n.3274-70_3274-68delinsCTG
XM_011522480.1:c.2965-70_2965-68delinsCTG	XP_011520782.1:n.2965-70_2965-68delinsCTG
XM_011522481.1:c.2965-70_2965-68delinsCTG	XP_011520783.1:n.2965-70_2965-68delinsCTG
XR_932836.1:n.3542-70_3542-68delinsCTG
XR_932837.1:n.3543-1698_3543-1696delinsCTG
XR_932838.1:n.3543-1698_3543-1696delinsCTG
XR_933133.1:n.407+417_407+419delinsCAG
XR_933134.1:n.754+417_754+419delinsCAG
NM_001351800.1:c.2965-70_2965-68delinsCTG	NP_001338729.1:n.2965-70_2965-68delinsCTG
NR_147784.1:n.3169-1698_3169-1696delinsCTG
XM_011522479.2:c.3274-70_3274-68delinsCTG	XP_011520781.1:n.3274-70_3274-68delinsCTG
XM_011522481.3:c.2965-70_2965-68delinsCTG	XP_011520783.1:n.2965-70_2965-68delinsCTG
XM_017023212.1:c.3139-70_3139-68delinsCTG	XP_016878701.1:n.3139-70_3139-68delinsCTG
XM_017023214.1:c.3307-1698_3307-1696delinsCTG	XP_016878703.1:n.3307-1698_3307-1696delinsCTG
XM_024450261.1:c.3343-70_3343-68delinsCTG	XP_024306029.1:n.3343-70_3343-68delinsCTG
XR_932836.2:n.3488-70_3488-68delinsCTG
XR_932837.3:n.3488-1698_3488-1696delinsCTG
XR_932838.3:n.3488-1698_3488-1696delinsCTG
NM_001171.6:c.3307-70_3307-68delinsCTG MANE Select	NP_001162.5:n.3307-70_3307-68delinsCTG