Canonical Allele Identifier: CA278675401

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433355
• ClinVar RCV Id: RCV000499303
• dbSNP Id: rs72664222
• MyVariant Identifiers: chr16:g.16244618_16244619insTTCT (hg19) ; chr16:g.16150761_16150762insTTCT (hg38)
• PubMed: PMID:12673275

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150762_16150763insTCTT , CM000678.2:g.16150762_16150763insTCTT	GRCh38
NC_000016.9:g.16244619_16244620insTCTT , CM000678.1:g.16244619_16244620insTCTT	GRCh37
NC_000016.8:g.16152120_16152121insTCTT	NCBI36
NG_007558.2:g.77711_77712insGAAA
NG_007558.3:g.77857_77858insGAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*392_*393insGAAA	ENSP00000483331.2:n.*392_*393insGAAA
ENST00000205557.12:c.4220_4221insGAAA MANE Select	ENSP00000205557.7:p.Gln1408LysfsTer?
ENST00000640696.1:c.1034_1035insGAAA	ENSP00000492197.1:p.Gln346LysfsTer?
ENST00000205557.11:c.4220_4221insGAAA	ENSP00000205557.7:p.Gln1408LysfsTer?
ENST00000456970.6:c.3845_3846insGAAA	ENSP00000405002.2:n.3845_3846insGAAA
ENST00000576204.5:n.1083_1084insGAAA
ENST00000622290.4:c.*1429_*1430insGAAA	ENSP00000483331.1:n.*1429_*1430insGAAA
NM_001171.5:c.4220_4221insGAAA	NP_001162.4:p.Gln1408LysfsTer?
XM_011522479.1:c.4187_4188insGAAA	XP_011520781.1:p.Gln1397LysfsTer?
XM_011522480.1:c.3878_3879insGAAA	XP_011520782.1:p.Gln1294LysfsTer?
XM_011522481.1:c.3878_3879insGAAA	XP_011520783.1:p.Gln1294LysfsTer?
XR_933134.1:n.538+6472_538+6473insTCTT
NM_001351800.1:c.3878_3879insGAAA	NP_001338729.1:p.Gln1294LysfsTer?
NR_147784.1:n.3882_3883insGAAA
XM_011522479.2:c.4187_4188insGAAA	XP_011520781.1:p.Gln1397LysfsTer?
XM_011522481.3:c.3878_3879insGAAA	XP_011520783.1:p.Gln1294LysfsTer?
XM_017023212.1:c.4052_4053insGAAA	XP_016878701.1:p.Gln1352LysfsTer?
XM_024450261.1:c.4256_4257insGAAA	XP_024306029.1:p.Gln1420LysfsTer?
NM_001171.6:c.4220_4221insGAAA MANE Select	NP_001162.5:p.Gln1408LysfsTer?