Canonical Allele Identifier: CA2806037989

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154911_16154912del , CM000678.2:g.16154911_16154912del	GRCh38
NC_000016.9:g.16248768_16248769del , CM000678.1:g.16248768_16248769del	GRCh37
NC_000016.8:g.16156269_16156270del	NCBI36
NG_007558.2:g.73560_73561del
NG_007558.3:g.73706_73707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.865_866del
ENST00000622290.5:c.*174_*175del	ENSP00000483331.2:n.*174_*175del
ENST00000205557.12:c.4002_4003del MANE Select	ENSP00000205557.7:p.Leu1335AlafsTer?
ENST00000640696.1:c.816_817del	ENSP00000492197.1:p.Leu273AlafsTer?
ENST00000205557.11:c.4002_4003del	ENSP00000205557.7:p.Leu1335AlafsTer?
ENST00000456970.6:c.3627_3628del	ENSP00000405002.2:n.3627_3628del
ENST00000576204.5:n.865_866del
ENST00000622290.4:c.*1211_*1212del	ENSP00000483331.1:n.*1211_*1212del
NM_001171.5:c.4002_4003del	NP_001162.4:p.Leu1335AlafsTer?
XM_011522479.1:c.3969_3970del	XP_011520781.1:p.Leu1324AlafsTer?
XM_011522480.1:c.3660_3661del	XP_011520782.1:p.Leu1221AlafsTer?
XM_011522481.1:c.3660_3661del	XP_011520783.1:p.Leu1221AlafsTer?
XR_933134.1:n.539-4870_539-4869del
NM_001351800.1:c.3660_3661del	NP_001338729.1:p.Leu1221AlafsTer?
NR_147784.1:n.3664_3665del
XM_011522479.2:c.3969_3970del	XP_011520781.1:p.Leu1324AlafsTer?
XM_011522481.3:c.3660_3661del	XP_011520783.1:p.Leu1221AlafsTer?
XM_017023212.1:c.3834_3835del	XP_016878701.1:p.Leu1279AlafsTer?
XM_024450261.1:c.4038_4039del	XP_024306029.1:p.Leu1347AlafsTer?
NM_001171.6:c.4002_4003del MANE Select	NP_001162.5:p.Leu1335AlafsTer?