Canonical Allele Identifier: CA493797380

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248842_16248843insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154985dup , CM000678.2:g.16154985dup	GRCh38
NC_000016.9:g.16248842dup , CM000678.1:g.16248842dup	GRCh37
NC_000016.8:g.16156343dup	NCBI36
NG_007558.2:g.73487dup
NG_007558.3:g.73633dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.792dup
ENST00000622290.5:c.*101dup	ENSP00000483331.2:n.*101dup
ENST00000205557.12:c.3929dup MANE Select	ENSP00000205557.7:p.Ser1310ArgfsTer11
ENST00000640696.1:c.743dup	ENSP00000492197.1:p.Ser248ArgfsTer11
ENST00000205557.11:c.3929dup	ENSP00000205557.7:p.Ser1310ArgfsTer11
ENST00000456970.6:c.3554dup	ENSP00000405002.2:n.3554dup
ENST00000576204.5:n.792dup
ENST00000622290.4:c.*1138dup	ENSP00000483331.1:n.*1138dup
NM_001171.5:c.3929dup	NP_001162.4:p.Ser1310ArgfsTer11
XM_011522479.1:c.3896dup	XP_011520781.1:p.Ser1299ArgfsTer11
XM_011522480.1:c.3587dup	XP_011520782.1:p.Ser1196ArgfsTer11
XM_011522481.1:c.3587dup	XP_011520783.1:p.Ser1196ArgfsTer11
XR_932836.1:n.4227dup
XR_932837.1:n.3965dup
XR_932838.1:n.4028dup
XR_933134.1:n.539-4796dup
NM_001351800.1:c.3587dup	NP_001338729.1:p.Ser1196ArgfsTer11
NR_147784.1:n.3591dup
XM_011522479.2:c.3896dup	XP_011520781.1:p.Ser1299ArgfsTer11
XM_011522481.3:c.3587dup	XP_011520783.1:p.Ser1196ArgfsTer11
XM_017023212.1:c.3761dup	XP_016878701.1:p.Ser1254ArgfsTer11
XM_024450261.1:c.3965dup	XP_024306029.1:p.Ser1322ArgfsTer11
XR_932836.2:n.4173dup
XR_932837.3:n.3910dup
XR_932838.3:n.3973dup
NM_001171.6:c.3929dup MANE Select	NP_001162.5:p.Ser1310ArgfsTer11