Canonical Allele Identifier: CA2210140873

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154901_16154903delinsAGT , CM000678.2:g.16154901_16154903delinsAGT	GRCh38
NC_000016.9:g.16248758_16248760delinsAGT , CM000678.1:g.16248758_16248760delinsAGT	GRCh37
NC_000016.8:g.16156259_16156261delinsAGT	NCBI36
NG_007558.2:g.73569_73571delinsACT
NG_007558.3:g.73715_73717delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.874_876delinsACT
ENST00000622290.5:c.*183_*185delinsACT	ENSP00000483331.2:n.*183_*185delinsACT
ENST00000205557.12:c.4011_4013delinsACT MANE Select	ENSP00000205557.7:p.Thr1337=
ENST00000640696.1:c.825_827delinsACT	ENSP00000492197.1:p.Thr275=
ENST00000205557.11:c.4011_4013delinsACT	ENSP00000205557.7:p.Thr1337=
ENST00000456970.6:c.3636_3638delinsACT	ENSP00000405002.2:n.3636_3638delinsACT
ENST00000576204.5:n.874_876delinsACT
ENST00000622290.4:c.*1220_*1222delinsACT	ENSP00000483331.1:n.*1220_*1222delinsACT
NM_001171.5:c.4011_4013delinsACT	NP_001162.4:p.Thr1337=
XM_011522479.1:c.3978_3980delinsACT	XP_011520781.1:p.Thr1326=
XM_011522480.1:c.3669_3671delinsACT	XP_011520782.1:p.Thr1223=
XM_011522481.1:c.3669_3671delinsACT	XP_011520783.1:p.Thr1223=
XR_933134.1:n.539-4880_539-4878delinsAGT
NM_001351800.1:c.3669_3671delinsACT	NP_001338729.1:p.Thr1223=
NR_147784.1:n.3673_3675delinsACT
XM_011522479.2:c.3978_3980delinsACT	XP_011520781.1:p.Thr1326=
XM_011522481.3:c.3669_3671delinsACT	XP_011520783.1:p.Thr1223=
XM_017023212.1:c.3843_3845delinsACT	XP_016878701.1:p.Thr1281=
XM_024450261.1:c.4047_4049delinsACT	XP_024306029.1:p.Thr1349=
NM_001171.6:c.4011_4013delinsACT MANE Select	NP_001162.5:p.Thr1337=