Canonical Allele Identifier: CA2210143283

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169756_16169759delinsAAGG , CM000678.2:g.16169756_16169759delinsAAGG	GRCh38
NC_000016.9:g.16263613_16263616delinsAAGG , CM000678.1:g.16263613_16263616delinsAAGG	GRCh37
NC_000016.8:g.16171114_16171117delinsAAGG	NCBI36
NG_007558.2:g.58713_58716delinsCCTT
NG_007558.3:g.58859_58862delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2882_2885delinsCCTT	ENSP00000483331.2:p.Ser961=
ENST00000205557.12:c.2882_2885delinsCCTT MANE Select	ENSP00000205557.7:p.Ser961=
ENST00000205557.11:c.2882_2885delinsCCTT	ENSP00000205557.7:p.Ser961=
ENST00000456970.6:c.2707_2710delinsCCTT	ENSP00000405002.2:n.2707_2710delinsCCTT
ENST00000622290.4:c.*91_*94delinsCCTT	ENSP00000483331.1:n.*91_*94delinsCCTT
NM_001171.5:c.2882_2885delinsCCTT	NP_001162.4:p.Ser961=
XM_011522479.1:c.2849_2852delinsCCTT	XP_011520781.1:p.Ser950=
XM_011522480.1:c.2540_2543delinsCCTT	XP_011520782.1:p.Ser847=
XM_011522481.1:c.2540_2543delinsCCTT	XP_011520783.1:p.Ser847=
XR_932836.1:n.3117_3120delinsCCTT
XR_932837.1:n.3118_3121delinsCCTT
XR_932838.1:n.3118_3121delinsCCTT
NM_001351800.1:c.2540_2543delinsCCTT	NP_001338729.1:p.Ser847=
NR_147784.1:n.2744_2747delinsCCTT
XM_011522479.2:c.2849_2852delinsCCTT	XP_011520781.1:p.Ser950=
XM_011522481.3:c.2540_2543delinsCCTT	XP_011520783.1:p.Ser847=
XM_017023212.1:c.2714_2717delinsCCTT	XP_016878701.1:p.Ser905=
XM_017023214.1:c.2882_2885delinsCCTT	XP_016878703.1:p.Ser961=
XM_024450261.1:c.2918_2921delinsCCTT	XP_024306029.1:p.Ser973=
XR_932836.2:n.3063_3066delinsCCTT
XR_932837.3:n.3063_3066delinsCCTT
XR_932838.3:n.3063_3066delinsCCTT
NM_001171.6:c.2882_2885delinsCCTT MANE Select	NP_001162.5:p.Ser961=