Canonical Allele Identifier: CA7926058

Gene: ABCC6

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16182879del , CM000678.2:g.16182879del	GRCh38
NC_000016.9:g.16276736del , CM000678.1:g.16276736del	GRCh37
NC_000016.8:g.16184237del	NCBI36
NG_007558.2:g.45597del
NG_007558.3:g.45743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.1999del	ENSP00000483331.2:p.Ala667GlnfsTer21
ENST00000205557.12:c.1999del MANE Select	ENSP00000205557.7:p.Ala667GlnfsTer21
ENST00000205557.11:c.1999del	ENSP00000205557.7:p.Ala667GlnfsTer21
ENST00000456970.6:c.1999del	ENSP00000405002.2:p.Ala667GlnfsTer21
ENST00000574094.5:n.2040-950del
ENST00000622290.4:c.1999del	ENSP00000483331.1:p.Ala667GlnfsTer21
NM_001171.5:c.1999del	NP_001162.4:p.Ala667GlnfsTer21
XM_011522479.1:c.1999del	XP_011520781.1:p.Ala667GlnfsTer21
XM_011522480.1:c.1657del	XP_011520782.1:p.Ala553GlnfsTer21
XM_011522481.1:c.1657del	XP_011520783.1:p.Ala553GlnfsTer21
XM_011522482.1:c.1999del	XP_011520784.1:p.Ala667GlnfsTer21
XR_932836.1:n.2234del
XR_932837.1:n.2235del
XR_932838.1:n.2235del
NM_001351800.1:c.1657del	NP_001338729.1:p.Ala553GlnfsTer21
NR_147784.1:n.2036del
XM_011522479.2:c.1999del	XP_011520781.1:p.Ala667GlnfsTer21
XM_011522481.3:c.1657del	XP_011520783.1:p.Ala553GlnfsTer21
XM_011522482.3:c.1999del	XP_011520784.1:p.Ala667GlnfsTer21
XM_017023212.1:c.1999del	XP_016878701.1:p.Ala667GlnfsTer21
XM_017023214.1:c.1999del	XP_016878703.1:p.Ala667GlnfsTer21
XM_024450261.1:c.2035del	XP_024306029.1:p.Ala679GlnfsTer21
XR_932836.2:n.2180del
XR_932837.3:n.2180del
XR_932838.3:n.2180del
NM_001171.6:c.1999del MANE Select	NP_001162.5:p.Ala667GlnfsTer21