Canonical Allele Identifier: CA2695222842

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150761_16150764dup , CM000678.2:g.16150761_16150764dup	GRCh38
NC_000016.9:g.16244618_16244621dup , CM000678.1:g.16244618_16244621dup	GRCh37
NC_000016.8:g.16152119_16152122dup	NCBI36
NG_007558.2:g.77709_77712dup
NG_007558.3:g.77855_77858dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*390_*393dup	ENSP00000483331.2:n.*390_*393dup
ENST00000205557.12:c.4218_4221dup MANE Select	ENSP00000205557.7:p.Gln1408GlufsTer?
ENST00000640696.1:c.1032_1035dup	ENSP00000492197.1:p.Gln346GlufsTer?
ENST00000205557.11:c.4218_4221dup	ENSP00000205557.7:p.Gln1408GlufsTer?
ENST00000456970.6:c.3843_3846dup	ENSP00000405002.2:n.3843_3846dup
ENST00000576204.5:n.1081_1084dup
ENST00000622290.4:c.*1427_*1430dup	ENSP00000483331.1:n.*1427_*1430dup
NM_001171.5:c.4218_4221dup	NP_001162.4:p.Gln1408GlufsTer?
XM_011522479.1:c.4185_4188dup	XP_011520781.1:p.Gln1397GlufsTer?
XM_011522480.1:c.3876_3879dup	XP_011520782.1:p.Gln1294GlufsTer?
XM_011522481.1:c.3876_3879dup	XP_011520783.1:p.Gln1294GlufsTer?
XR_933134.1:n.538+6471_538+6474dup
NM_001351800.1:c.3876_3879dup	NP_001338729.1:p.Gln1294GlufsTer?
NR_147784.1:n.3880_3883dup
XM_011522479.2:c.4185_4188dup	XP_011520781.1:p.Gln1397GlufsTer?
XM_011522481.3:c.3876_3879dup	XP_011520783.1:p.Gln1294GlufsTer?
XM_017023212.1:c.4050_4053dup	XP_016878701.1:p.Gln1352GlufsTer?
XM_024450261.1:c.4254_4257dup	XP_024306029.1:p.Gln1420GlufsTer?
NM_001171.6:c.4218_4221dup MANE Select	NP_001162.5:p.Gln1408GlufsTer?