Canonical Allele Identifier: CA2575924579

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150751_16150752insGT , CM000678.2:g.16150751_16150752insGT	GRCh38
NC_000016.9:g.16244608_16244609insGT , CM000678.1:g.16244608_16244609insGT	GRCh37
NC_000016.8:g.16152109_16152110insGT	NCBI36
NG_007558.2:g.77720_77721insAC
NG_007558.3:g.77866_77867insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*401_*402insAC	ENSP00000483331.2:n.*401_*402insAC
ENST00000205557.12:c.4229_4230insAC MANE Select	ENSP00000205557.7:p.Cys1411ArgfsTer?
ENST00000640696.1:c.1043_1044insAC	ENSP00000492197.1:p.Cys349ArgfsTer?
ENST00000205557.11:c.4229_4230insAC	ENSP00000205557.7:p.Cys1411ArgfsTer?
ENST00000456970.6:c.3854_3855insAC	ENSP00000405002.2:n.3854_3855insAC
ENST00000576204.5:n.1092_1093insAC
ENST00000622290.4:c.*1438_*1439insAC	ENSP00000483331.1:n.*1438_*1439insAC
NM_001171.5:c.4229_4230insAC	NP_001162.4:p.Cys1411ArgfsTer?
XM_011522479.1:c.4196_4197insAC	XP_011520781.1:p.Cys1400ArgfsTer?
XM_011522480.1:c.3887_3888insAC	XP_011520782.1:p.Cys1297ArgfsTer?
XM_011522481.1:c.3887_3888insAC	XP_011520783.1:p.Cys1297ArgfsTer?
XR_933134.1:n.538+6461_538+6462insGT
NM_001351800.1:c.3887_3888insAC	NP_001338729.1:p.Cys1297ArgfsTer?
NR_147784.1:n.3891_3892insAC
XM_011522479.2:c.4196_4197insAC	XP_011520781.1:p.Cys1400ArgfsTer?
XM_011522481.3:c.3887_3888insAC	XP_011520783.1:p.Cys1297ArgfsTer?
XM_017023212.1:c.4061_4062insAC	XP_016878701.1:p.Cys1355ArgfsTer?
XM_024450261.1:c.4265_4266insAC	XP_024306029.1:p.Cys1423ArgfsTer?
NM_001171.6:c.4229_4230insAC MANE Select	NP_001162.5:p.Cys1411ArgfsTer?