Canonical Allele Identifier: CA2732119278

Gene: ABCC6

Linked Data

• dbSNP Id: rs2152235364

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169663del , CM000678.2:g.16169663del	GRCh38
NC_000016.9:g.16263520del , CM000678.1:g.16263520del	GRCh37
NC_000016.8:g.16171021del	NCBI36
NG_007558.2:g.58809del
NG_007558.3:g.58955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2978del	ENSP00000483331.2:p.Leu993ProfsTer19
ENST00000205557.12:c.2978del MANE Select	ENSP00000205557.7:p.Leu993ProfsTer19
ENST00000205557.11:c.2978del	ENSP00000205557.7:p.Leu993ProfsTer19
ENST00000456970.6:c.2803del	ENSP00000405002.2:n.2803del
ENST00000622290.4:c.*187del	ENSP00000483331.1:n.*187del
NM_001171.5:c.2978del	NP_001162.4:p.Leu993ProfsTer19
XM_011522479.1:c.2945del	XP_011520781.1:p.Leu982ProfsTer19
XM_011522480.1:c.2636del	XP_011520782.1:p.Leu879ProfsTer19
XM_011522481.1:c.2636del	XP_011520783.1:p.Leu879ProfsTer19
XR_932836.1:n.3213del
XR_932837.1:n.3214del
XR_932838.1:n.3214del
NM_001351800.1:c.2636del	NP_001338729.1:p.Leu879ProfsTer19
NR_147784.1:n.2840del
XM_011522479.2:c.2945del	XP_011520781.1:p.Leu982ProfsTer19
XM_011522481.3:c.2636del	XP_011520783.1:p.Leu879ProfsTer19
XM_017023212.1:c.2810del	XP_016878701.1:p.Leu937ProfsTer19
XM_017023214.1:c.2978del	XP_016878703.1:p.Leu993ProfsTer19
XM_024450261.1:c.3014del	XP_024306029.1:p.Leu1005ProfsTer19
XR_932836.2:n.3159del
XR_932837.3:n.3159del
XR_932838.3:n.3159del
NM_001171.6:c.2978del MANE Select	NP_001162.5:p.Leu993ProfsTer19