Canonical Allele Identifier: CA2695222844

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163026dup , CM000678.2:g.16163026dup	GRCh38
NC_000016.9:g.16256883dup , CM000678.1:g.16256883dup	GRCh37
NC_000016.8:g.16164384dup	NCBI36
NG_007558.2:g.65446dup
NG_007558.3:g.65592dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3473dup	ENSP00000483331.2:p.Arg1159GlufsTer10
ENST00000205557.12:c.3473dup MANE Select	ENSP00000205557.7:p.Arg1159GlufsTer10
ENST00000640696.1:c.321-1462dup	ENSP00000492197.1:n.321-1462dup
ENST00000205557.11:c.3473dup	ENSP00000205557.7:p.Arg1159GlufsTer10
ENST00000456970.6:c.3132-1462dup	ENSP00000405002.2:n.3132-1462dup
ENST00000622290.4:c.*682dup	ENSP00000483331.1:n.*682dup
NM_001171.5:c.3473dup	NP_001162.4:p.Arg1159GlufsTer10
XM_011522479.1:c.3440dup	XP_011520781.1:p.Arg1148GlufsTer10
XM_011522480.1:c.3131dup	XP_011520782.1:p.Arg1045GlufsTer10
XM_011522481.1:c.3131dup	XP_011520783.1:p.Arg1045GlufsTer10
XR_932836.1:n.3708dup
XR_932837.1:n.3543-1462dup
XR_932838.1:n.3543-1462dup
XR_933133.1:n.407+183dup
XR_933134.1:n.754+183dup
NM_001351800.1:c.3131dup	NP_001338729.1:p.Arg1045GlufsTer10
NR_147784.1:n.3169-1462dup
XM_011522479.2:c.3440dup	XP_011520781.1:p.Arg1148GlufsTer10
XM_011522481.3:c.3131dup	XP_011520783.1:p.Arg1045GlufsTer10
XM_017023212.1:c.3305dup	XP_016878701.1:p.Arg1103GlufsTer10
XM_017023214.1:c.3307-1462dup	XP_016878703.1:n.3307-1462dup
XM_024450261.1:c.3509dup	XP_024306029.1:p.Arg1171GlufsTer10
XR_932836.2:n.3654dup
XR_932837.3:n.3488-1462dup
XR_932838.3:n.3488-1462dup
NM_001171.6:c.3473dup MANE Select	NP_001162.5:p.Arg1159GlufsTer10