Canonical Allele Identifier: CA2999627039

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154915del , CM000678.2:g.16154915del	GRCh38
NC_000016.9:g.16248772del , CM000678.1:g.16248772del	GRCh37
NC_000016.8:g.16156273del	NCBI36
NG_007558.2:g.73560del
NG_007558.3:g.73706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.865del
ENST00000622290.5:c.*174del	ENSP00000483331.2:n.*174del
ENST00000205557.12:c.4002del MANE Select	ENSP00000205557.7:p.Leu1335CysfsTer24
ENST00000640696.1:c.816del	ENSP00000492197.1:p.Leu273CysfsTer24
ENST00000205557.11:c.4002del	ENSP00000205557.7:p.Leu1335CysfsTer24
ENST00000456970.6:c.3627del	ENSP00000405002.2:n.3627del
ENST00000576204.5:n.865del
ENST00000622290.4:c.*1211del	ENSP00000483331.1:n.*1211del
NM_001171.5:c.4002del	NP_001162.4:p.Leu1335CysfsTer24
XM_011522479.1:c.3969del	XP_011520781.1:p.Leu1324CysfsTer24
XM_011522480.1:c.3660del	XP_011520782.1:p.Leu1221CysfsTer24
XM_011522481.1:c.3660del	XP_011520783.1:p.Leu1221CysfsTer24
XR_933134.1:n.539-4866del
NM_001351800.1:c.3660del	NP_001338729.1:p.Leu1221CysfsTer24
NR_147784.1:n.3664del
XM_011522479.2:c.3969del	XP_011520781.1:p.Leu1324CysfsTer24
XM_011522481.3:c.3660del	XP_011520783.1:p.Leu1221CysfsTer24
XM_017023212.1:c.3834del	XP_016878701.1:p.Leu1279CysfsTer24
XM_024450261.1:c.4038del	XP_024306029.1:p.Leu1347CysfsTer24
NM_001171.6:c.4002del MANE Select	NP_001162.5:p.Leu1335CysfsTer24