Canonical Allele Identifier: CA2210133388

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149792_16149794delinsCAG , CM000678.2:g.16149792_16149794delinsCAG	GRCh38
NC_000016.9:g.16243649_16243651delinsCAG , CM000678.1:g.16243649_16243651delinsCAG	GRCh37
NC_000016.8:g.16151150_16151152delinsCAG	NCBI36
NG_007558.2:g.78678_78680delinsCTG
NG_007558.3:g.78824_78826delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*1023_*1025delinsCTG	ENSP00000483331.2:n.*1023_*1025delinsCTG
ENST00000205557.12:c.*339_*341delinsCTG MANE Select	ENSP00000205557.7:n.*339_*341delinsCTG
ENST00000640696.1:c.1665_1667delinsCTG	ENSP00000492197.1:n.1665_1667delinsCTG
ENST00000205557.11:c.*339_*341delinsCTG	ENSP00000205557.7:n.*339_*341delinsCTG
ENST00000576204.5:n.1714_1716delinsCTG
ENST00000622290.4:c.*2060_*2062delinsCTG	ENSP00000483331.1:n.*2060_*2062delinsCTG
NM_001171.5:c.*339_*341delinsCTG	NP_001162.4:n.*339_*341delinsCTG
XM_011522479.1:c.*339_*341delinsCTG	XP_011520781.1:n.*339_*341delinsCTG
XM_011522480.1:c.*339_*341delinsCTG	XP_011520782.1:n.*339_*341delinsCTG
XM_011522481.1:c.*339_*341delinsCTG	XP_011520783.1:n.*339_*341delinsCTG
XR_933134.1:n.538+5502_538+5504delinsCAG
NM_001351800.1:c.*339_*341delinsCTG	NP_001338729.1:n.*339_*341delinsCTG
NR_147784.1:n.4513_4515delinsCTG
XM_011522479.2:c.*339_*341delinsCTG	XP_011520781.1:n.*339_*341delinsCTG
XM_011522481.3:c.*339_*341delinsCTG	XP_011520783.1:n.*339_*341delinsCTG
XM_017023212.1:c.*339_*341delinsCTG	XP_016878701.1:n.*339_*341delinsCTG
XM_024450261.1:c.*339_*341delinsCTG	XP_024306029.1:n.*339_*341delinsCTG
NM_001171.6:c.*339_*341delinsCTG MANE Select	NP_001162.5:n.*339_*341delinsCTG