Canonical Allele Identifier: CA2695222845

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163052del , CM000678.2:g.16163052del	GRCh38
NC_000016.9:g.16256909del , CM000678.1:g.16256909del	GRCh37
NC_000016.8:g.16164410del	NCBI36
NG_007558.2:g.65420del
NG_007558.3:g.65566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3447del	ENSP00000483331.2:p.Asn1150ThrfsTer5
ENST00000205557.12:c.3447del MANE Select	ENSP00000205557.7:p.Asn1150ThrfsTer5
ENST00000640696.1:c.321-1488del	ENSP00000492197.1:n.321-1488del
ENST00000205557.11:c.3447del	ENSP00000205557.7:p.Asn1150ThrfsTer5
ENST00000456970.6:c.3132-1488del	ENSP00000405002.2:n.3132-1488del
ENST00000622290.4:c.*656del	ENSP00000483331.1:n.*656del
NM_001171.5:c.3447del	NP_001162.4:p.Asn1150ThrfsTer5
XM_011522479.1:c.3414del	XP_011520781.1:p.Asn1139ThrfsTer5
XM_011522480.1:c.3105del	XP_011520782.1:p.Asn1036ThrfsTer5
XM_011522481.1:c.3105del	XP_011520783.1:p.Asn1036ThrfsTer5
XR_932836.1:n.3682del
XR_932837.1:n.3543-1488del
XR_932838.1:n.3543-1488del
XR_933133.1:n.407+209del
XR_933134.1:n.754+209del
NM_001351800.1:c.3105del	NP_001338729.1:p.Asn1036ThrfsTer5
NR_147784.1:n.3169-1488del
XM_011522479.2:c.3414del	XP_011520781.1:p.Asn1139ThrfsTer5
XM_011522481.3:c.3105del	XP_011520783.1:p.Asn1036ThrfsTer5
XM_017023212.1:c.3279del	XP_016878701.1:p.Asn1094ThrfsTer5
XM_017023214.1:c.3307-1488del	XP_016878703.1:n.3307-1488del
XM_024450261.1:c.3483del	XP_024306029.1:p.Asn1162ThrfsTer5
XR_932836.2:n.3628del
XR_932837.3:n.3488-1488del
XR_932838.3:n.3488-1488del
NM_001171.6:c.3447del MANE Select	NP_001162.5:p.Asn1150ThrfsTer5