Canonical Allele Identifier: CA718587014

Gene: ABCC6

Linked Data

• dbSNP Id: rs1243641451
• MyVariant Identifiers: chr16:g.16244485del (hg19) ; chr16:g.16150628del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150628del , CM000678.2:g.16150628del	GRCh38
NC_000016.9:g.16244485del , CM000678.1:g.16244485del	GRCh37
NC_000016.8:g.16151986del	NCBI36
NG_007558.2:g.77844del
NG_007558.3:g.77990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*525del	ENSP00000483331.2:n.*525del
ENST00000205557.12:c.4353del MANE Select	ENSP00000205557.7:p.Cys1451Ter
ENST00000640696.1:c.1167del	ENSP00000492197.1:p.Cys389Ter
ENST00000205557.11:c.4353del	ENSP00000205557.7:p.Cys1451Ter
ENST00000456970.6:c.3978del	ENSP00000405002.2:n.3978del
ENST00000576204.5:n.1216del
ENST00000622290.4:c.*1562del	ENSP00000483331.1:n.*1562del
NM_001171.5:c.4353del	NP_001162.4:p.Cys1451Ter
XM_011522479.1:c.4320del	XP_011520781.1:p.Cys1440Ter
XM_011522480.1:c.4011del	XP_011520782.1:p.Cys1337Ter
XM_011522481.1:c.4011del	XP_011520783.1:p.Cys1337Ter
XR_933134.1:n.538+6338del
NM_001351800.1:c.4011del	NP_001338729.1:p.Cys1337Ter
NR_147784.1:n.4015del
XM_011522479.2:c.4320del	XP_011520781.1:p.Cys1440Ter
XM_011522481.3:c.4011del	XP_011520783.1:p.Cys1337Ter
XM_017023212.1:c.4185del	XP_016878701.1:p.Cys1395Ter
XM_024450261.1:c.4389del	XP_024306029.1:p.Cys1463Ter
NM_001171.6:c.4353del MANE Select	NP_001162.5:p.Cys1451Ter