Canonical Allele Identifier: CA645572488

Gene: ABCC6

Linked Data

• COSMIC: COSM4967769

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163035_16163043del , CM000678.2:g.16163035_16163043del	GRCh38
NC_000016.9:g.16256892_16256900del , CM000678.1:g.16256892_16256900del	GRCh37
NC_000016.8:g.16164393_16164401del	NCBI36
NG_007558.2:g.65430_65438del
NG_007558.3:g.65576_65584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3457_3465del	ENSP00000483331.2:p.Arg1153_Asp1155del
ENST00000205557.12:c.3457_3465del MANE Select	ENSP00000205557.7:p.Arg1153_Asp1155del
ENST00000640696.1:c.321-1478_321-1470del	ENSP00000492197.1:n.321-1478_321-1470del
ENST00000205557.11:c.3457_3465del	ENSP00000205557.7:p.Arg1153_Asp1155del
ENST00000456970.6:c.3132-1478_3132-1470del	ENSP00000405002.2:n.3132-1478_3132-1470del
ENST00000622290.4:c.*666_*674del	ENSP00000483331.1:n.*666_*674del
NM_001171.5:c.3457_3465del	NP_001162.4:p.Arg1153_Asp1155del
XM_011522479.1:c.3424_3432del	XP_011520781.1:p.Arg1142_Asp1144del
XM_011522480.1:c.3115_3123del	XP_011520782.1:p.Arg1039_Asp1041del
XM_011522481.1:c.3115_3123del	XP_011520783.1:p.Arg1039_Asp1041del
XR_932836.1:n.3692_3700del
XR_932837.1:n.3543-1478_3543-1470del
XR_932838.1:n.3543-1478_3543-1470del
XR_933133.1:n.407+192_407+200del
XR_933134.1:n.754+192_754+200del
NM_001351800.1:c.3115_3123del	NP_001338729.1:p.Arg1039_Asp1041del
NR_147784.1:n.3169-1478_3169-1470del
XM_011522479.2:c.3424_3432del	XP_011520781.1:p.Arg1142_Asp1144del
XM_011522481.3:c.3115_3123del	XP_011520783.1:p.Arg1039_Asp1041del
XM_017023212.1:c.3289_3297del	XP_016878701.1:p.Arg1097_Asp1099del
XM_017023214.1:c.3307-1478_3307-1470del	XP_016878703.1:n.3307-1478_3307-1470del
XM_024450261.1:c.3493_3501del	XP_024306029.1:p.Arg1165_Asp1167del
XR_932836.2:n.3638_3646del
XR_932837.3:n.3488-1478_3488-1470del
XR_932838.3:n.3488-1478_3488-1470del
NM_001171.6:c.3457_3465del MANE Select	NP_001162.5:p.Arg1153_Asp1155del