Canonical Allele Identifier: CA394884402

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16154655del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154656del , CM000678.2:g.16154656del	GRCh38
NC_000016.9:g.16248513del , CM000678.1:g.16248513del	GRCh37
NC_000016.8:g.16156014del	NCBI36
NG_007558.2:g.73817del
NG_007558.3:g.73963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*353del	ENSP00000483331.2:n.*353del
ENST00000205557.12:c.4181del MANE Select	ENSP00000205557.7:p.Lys1394SerfsTer9
ENST00000640696.1:c.995del	ENSP00000492197.1:p.Lys332SerfsTer9
ENST00000205557.11:c.4181del	ENSP00000205557.7:p.Lys1394SerfsTer9
ENST00000456970.6:c.3806del	ENSP00000405002.2:n.3806del
ENST00000576204.5:n.1044del
ENST00000622290.4:c.*1390del	ENSP00000483331.1:n.*1390del
NM_001171.5:c.4181del	NP_001162.4:p.Lys1394SerfsTer9
XM_011522479.1:c.4148del	XP_011520781.1:p.Lys1383SerfsTer9
XM_011522480.1:c.3839del	XP_011520782.1:p.Lys1280SerfsTer9
XM_011522481.1:c.3839del	XP_011520783.1:p.Lys1280SerfsTer9
XR_933134.1:n.539-5125del
NM_001351800.1:c.3839del	NP_001338729.1:p.Lys1280SerfsTer9
NR_147784.1:n.3843del
XM_011522479.2:c.4148del	XP_011520781.1:p.Lys1383SerfsTer9
XM_011522481.3:c.3839del	XP_011520783.1:p.Lys1280SerfsTer9
XM_017023212.1:c.4013del	XP_016878701.1:p.Lys1338SerfsTer9
XM_024450261.1:c.4217del	XP_024306029.1:p.Lys1406SerfsTer9
NM_001171.6:c.4181del MANE Select	NP_001162.5:p.Lys1394SerfsTer9