Canonical Allele Identifier: CA621656630

Gene: ABCC6

Linked Data

• dbSNP Id: rs1567523218
• gnomAD v2: 16-16291952-CG-C
• gnomAD v4: 16-16198095-CG-C
• MyVariant Identifiers: chr16:g.16291953del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198097del , CM000678.2:g.16198097del	GRCh38
NC_000016.9:g.16291954del , CM000678.1:g.16291954del	GRCh37
NC_000016.8:g.16199455del	NCBI36
NG_007558.2:g.30376del
NG_007558.3:g.30522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1263del	ENSP00000507301.1:p.Glu422ArgfsTer?
ENST00000622290.5:c.1263del	ENSP00000483331.2:p.Glu422ArgfsTer?
ENST00000205557.12:c.1263del MANE Select	ENSP00000205557.7:p.Glu422ArgfsTer?
ENST00000205557.11:c.1263del	ENSP00000205557.7:p.Glu422ArgfsTer?
ENST00000456970.6:c.1263del	ENSP00000405002.2:p.Glu422ArgfsTer?
ENST00000574094.5:n.1359del
ENST00000622290.4:c.1263del	ENSP00000483331.1:p.Glu422ArgfsTer?
NM_001171.5:c.1263del	NP_001162.4:p.Glu422ArgfsTer?
XM_011522479.1:c.1263del	XP_011520781.1:p.Glu422ArgfsTer?
XM_011522480.1:c.921del	XP_011520782.1:p.Glu308ArgfsTer?
XM_011522481.1:c.921del	XP_011520783.1:p.Glu308ArgfsTer?
XM_011522482.1:c.1263del	XP_011520784.1:p.Glu422ArgfsTer?
XR_932836.1:n.1498del
XR_932837.1:n.1499del
XR_932838.1:n.1499del
NM_001351800.1:c.921del	NP_001338729.1:p.Glu308ArgfsTer?
NR_147784.1:n.1300del
XM_011522479.2:c.1263del	XP_011520781.1:p.Glu422ArgfsTer?
XM_011522481.3:c.921del	XP_011520783.1:p.Glu308ArgfsTer?
XM_011522482.3:c.1263del	XP_011520784.1:p.Glu422ArgfsTer?
XM_017023212.1:c.1263del	XP_016878701.1:p.Glu422ArgfsTer?
XM_017023214.1:c.1263del	XP_016878703.1:p.Glu422ArgfsTer?
XM_024450261.1:c.1299del	XP_024306029.1:p.Glu434ArgfsTer?
XR_932836.2:n.1444del
XR_932837.3:n.1444del
XR_932838.3:n.1444del
NM_001171.6:c.1263del MANE Select	NP_001162.5:p.Glu422ArgfsTer?