Canonical Allele Identifier: CA2210140462

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154653_16154654delinsAC , CM000678.2:g.16154653_16154654delinsAC	GRCh38
NC_000016.9:g.16248510_16248511delinsAC , CM000678.1:g.16248510_16248511delinsAC	GRCh37
NC_000016.8:g.16156011_16156012delinsAC	NCBI36
NG_007558.2:g.73818_73819delinsGT
NG_007558.3:g.73964_73965delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*354_*355delinsGT	ENSP00000483331.2:n.*354_*355delinsGT
ENST00000205557.12:c.4182_4183delinsGT MANE Select	ENSP00000205557.7:p.Lys1394=
ENST00000640696.1:c.996_997delinsGT	ENSP00000492197.1:p.Lys332=
ENST00000205557.11:c.4182_4183delinsGT	ENSP00000205557.7:p.Lys1394=
ENST00000456970.6:c.3807_3808delinsGT	ENSP00000405002.2:n.3807_3808delinsGT
ENST00000576204.5:n.1045_1046delinsGT
ENST00000622290.4:c.*1391_*1392delinsGT	ENSP00000483331.1:n.*1391_*1392delinsGT
NM_001171.5:c.4182_4183delinsGT	NP_001162.4:p.Lys1394=
XM_011522479.1:c.4149_4150delinsGT	XP_011520781.1:p.Lys1383=
XM_011522480.1:c.3840_3841delinsGT	XP_011520782.1:p.Lys1280=
XM_011522481.1:c.3840_3841delinsGT	XP_011520783.1:p.Lys1280=
XR_933134.1:n.539-5128_539-5127delinsAC
NM_001351800.1:c.3840_3841delinsGT	NP_001338729.1:p.Lys1280=
NR_147784.1:n.3844_3845delinsGT
XM_011522479.2:c.4149_4150delinsGT	XP_011520781.1:p.Lys1383=
XM_011522481.3:c.3840_3841delinsGT	XP_011520783.1:p.Lys1280=
XM_017023212.1:c.4014_4015delinsGT	XP_016878701.1:p.Lys1338=
XM_024450261.1:c.4218_4219delinsGT	XP_024306029.1:p.Lys1406=
NM_001171.6:c.4182_4183delinsGT MANE Select	NP_001162.5:p.Lys1394=