Canonical Allele Identifier: CA2210136441

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163010_16163011delinsCG , CM000678.2:g.16163010_16163011delinsCG	GRCh38
NC_000016.9:g.16256867_16256868delinsCG , CM000678.1:g.16256867_16256868delinsCG	GRCh37
NC_000016.8:g.16164368_16164369delinsCG	NCBI36
NG_007558.2:g.65461_65462delinsCG
NG_007558.3:g.65607_65608delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3488_3489delinsCG	ENSP00000483331.2:p.Pro1163=
ENST00000205557.12:c.3488_3489delinsCG MANE Select	ENSP00000205557.7:p.Pro1163=
ENST00000640696.1:c.321-1447_321-1446delinsCG	ENSP00000492197.1:n.321-1447_321-1446delinsCG
ENST00000205557.11:c.3488_3489delinsCG	ENSP00000205557.7:p.Pro1163=
ENST00000456970.6:c.3132-1447_3132-1446delinsCG	ENSP00000405002.2:n.3132-1447_3132-1446delinsCG
ENST00000622290.4:c.*697_*698delinsCG	ENSP00000483331.1:n.*697_*698delinsCG
NM_001171.5:c.3488_3489delinsCG	NP_001162.4:p.Pro1163=
XM_011522479.1:c.3455_3456delinsCG	XP_011520781.1:p.Pro1152=
XM_011522480.1:c.3146_3147delinsCG	XP_011520782.1:p.Pro1049=
XM_011522481.1:c.3146_3147delinsCG	XP_011520783.1:p.Pro1049=
XR_932836.1:n.3723_3724delinsCG
XR_932837.1:n.3543-1447_3543-1446delinsCG
XR_932838.1:n.3543-1447_3543-1446delinsCG
XR_933133.1:n.407+167_407+168delinsCG
XR_933134.1:n.754+167_754+168delinsCG
NM_001351800.1:c.3146_3147delinsCG	NP_001338729.1:p.Pro1049=
NR_147784.1:n.3169-1447_3169-1446delinsCG
XM_011522479.2:c.3455_3456delinsCG	XP_011520781.1:p.Pro1152=
XM_011522481.3:c.3146_3147delinsCG	XP_011520783.1:p.Pro1049=
XM_017023212.1:c.3320_3321delinsCG	XP_016878701.1:p.Pro1107=
XM_017023214.1:c.3307-1447_3307-1446delinsCG	XP_016878703.1:n.3307-1447_3307-1446delinsCG
XM_024450261.1:c.3524_3525delinsCG	XP_024306029.1:p.Pro1175=
XR_932836.2:n.3669_3670delinsCG
XR_932837.3:n.3488-1447_3488-1446delinsCG
XR_932838.3:n.3488-1447_3488-1446delinsCG
NM_001171.6:c.3488_3489delinsCG MANE Select	NP_001162.5:p.Pro1163=