Canonical Allele Identifier: CA2999627073

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154923del , CM000678.2:g.16154923del	GRCh38
NC_000016.9:g.16248780del , CM000678.1:g.16248780del	GRCh37
NC_000016.8:g.16156281del	NCBI36
NG_007558.2:g.73549del
NG_007558.3:g.73695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.854del
ENST00000622290.5:c.*163del	ENSP00000483331.2:n.*163del
ENST00000205557.12:c.3991del MANE Select	ENSP00000205557.7:p.Ala1331ProfsTer28
ENST00000640696.1:c.805del	ENSP00000492197.1:p.Ala269ProfsTer28
ENST00000205557.11:c.3991del	ENSP00000205557.7:p.Ala1331ProfsTer28
ENST00000456970.6:c.3616del	ENSP00000405002.2:n.3616del
ENST00000576204.5:n.854del
ENST00000622290.4:c.*1200del	ENSP00000483331.1:n.*1200del
NM_001171.5:c.3991del	NP_001162.4:p.Ala1331ProfsTer28
XM_011522479.1:c.3958del	XP_011520781.1:p.Ala1320ProfsTer28
XM_011522480.1:c.3649del	XP_011520782.1:p.Ala1217ProfsTer28
XM_011522481.1:c.3649del	XP_011520783.1:p.Ala1217ProfsTer28
XR_933134.1:n.539-4858del
NM_001351800.1:c.3649del	NP_001338729.1:p.Ala1217ProfsTer28
NR_147784.1:n.3653del
XM_011522479.2:c.3958del	XP_011520781.1:p.Ala1320ProfsTer28
XM_011522481.3:c.3649del	XP_011520783.1:p.Ala1217ProfsTer28
XM_017023212.1:c.3823del	XP_016878701.1:p.Ala1275ProfsTer28
XM_024450261.1:c.4027del	XP_024306029.1:p.Ala1343ProfsTer28
NM_001171.6:c.3991del MANE Select	NP_001162.5:p.Ala1331ProfsTer28