Canonical Allele Identifier: CA2210136605

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163063_16163064delinsAG , CM000678.2:g.16163063_16163064delinsAG	GRCh38
NC_000016.9:g.16256920_16256921delinsAG , CM000678.1:g.16256920_16256921delinsAG	GRCh37
NC_000016.8:g.16164421_16164422delinsAG	NCBI36
NG_007558.2:g.65408_65409delinsCT
NG_007558.3:g.65554_65555delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3435_3436delinsCT	ENSP00000483331.2:p.Pro1145=
ENST00000205557.12:c.3435_3436delinsCT MANE Select	ENSP00000205557.7:p.Pro1145=
ENST00000640696.1:c.321-1500_321-1499delinsCT	ENSP00000492197.1:n.321-1500_321-1499deli...
ENST00000205557.11:c.3435_3436delinsCT	ENSP00000205557.7:p.Pro1145=
ENST00000456970.6:c.3132-1500_3132-1499delinsCT	ENSP00000405002.2:n.3132-1500_3132-1499de...
ENST00000622290.4:c.*644_*645delinsCT	ENSP00000483331.1:n.*644_*645delinsCT
NM_001171.5:c.3435_3436delinsCT	NP_001162.4:p.Pro1145=
XM_011522479.1:c.3402_3403delinsCT	XP_011520781.1:p.Pro1134=
XM_011522480.1:c.3093_3094delinsCT	XP_011520782.1:p.Pro1031=
XM_011522481.1:c.3093_3094delinsCT	XP_011520783.1:p.Pro1031=
XR_932836.1:n.3670_3671delinsCT
XR_932837.1:n.3543-1500_3543-1499delinsCT
XR_932838.1:n.3543-1500_3543-1499delinsCT
XR_933133.1:n.407+220_407+221delinsAG
XR_933134.1:n.754+220_754+221delinsAG
NM_001351800.1:c.3093_3094delinsCT	NP_001338729.1:p.Pro1031=
NR_147784.1:n.3169-1500_3169-1499delinsCT
XM_011522479.2:c.3402_3403delinsCT	XP_011520781.1:p.Pro1134=
XM_011522481.3:c.3093_3094delinsCT	XP_011520783.1:p.Pro1031=
XM_017023212.1:c.3267_3268delinsCT	XP_016878701.1:p.Pro1089=
XM_017023214.1:c.3307-1500_3307-1499delinsCT	XP_016878703.1:n.3307-1500_3307-1499delin...
XM_024450261.1:c.3471_3472delinsCT	XP_024306029.1:p.Pro1157=
XR_932836.2:n.3616_3617delinsCT
XR_932837.3:n.3488-1500_3488-1499delinsCT
XR_932838.3:n.3488-1500_3488-1499delinsCT
NM_001171.6:c.3435_3436delinsCT MANE Select	NP_001162.5:p.Pro1145=