Canonical Allele Identifier: CA2806038344

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198156_16198157insAGA , CM000678.2:g.16198156_16198157insAGA	GRCh38
NC_000016.9:g.16292013_16292014insAGA , CM000678.1:g.16292013_16292014insAGA	GRCh37
NC_000016.8:g.16199514_16199515insAGA	NCBI36
NG_007558.2:g.30315_30316insTCT
NG_007558.3:g.30461_30462insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1202_1203insTCT	ENSP00000507301.1:p.Arg401delinsSerLeu
ENST00000622290.5:c.1202_1203insTCT	ENSP00000483331.2:p.Arg401delinsSerLeu
ENST00000205557.12:c.1202_1203insTCT MANE Select	ENSP00000205557.7:p.Arg401delinsSerLeu
ENST00000205557.11:c.1202_1203insTCT	ENSP00000205557.7:p.Arg401delinsSerLeu
ENST00000456970.6:c.1202_1203insTCT	ENSP00000405002.2:p.Arg401delinsSerLeu
ENST00000574094.5:n.1298_1299insTCT
ENST00000622290.4:c.1202_1203insTCT	ENSP00000483331.1:p.Arg401delinsSerLeu
NM_001171.5:c.1202_1203insTCT	NP_001162.4:p.Arg401delinsSerLeu
XM_011522479.1:c.1202_1203insTCT	XP_011520781.1:p.Arg401delinsSerLeu
XM_011522480.1:c.860_861insTCT	XP_011520782.1:p.Arg287delinsSerLeu
XM_011522481.1:c.860_861insTCT	XP_011520783.1:p.Arg287delinsSerLeu
XM_011522482.1:c.1202_1203insTCT	XP_011520784.1:p.Arg401delinsSerLeu
XR_932836.1:n.1437_1438insTCT
XR_932837.1:n.1438_1439insTCT
XR_932838.1:n.1438_1439insTCT
NM_001351800.1:c.860_861insTCT	NP_001338729.1:p.Arg287delinsSerLeu
NR_147784.1:n.1239_1240insTCT
XM_011522479.2:c.1202_1203insTCT	XP_011520781.1:p.Arg401delinsSerLeu
XM_011522481.3:c.860_861insTCT	XP_011520783.1:p.Arg287delinsSerLeu
XM_011522482.3:c.1202_1203insTCT	XP_011520784.1:p.Arg401delinsSerLeu
XM_017023212.1:c.1202_1203insTCT	XP_016878701.1:p.Arg401delinsSerLeu
XM_017023214.1:c.1202_1203insTCT	XP_016878703.1:p.Arg401delinsSerLeu
XM_024450261.1:c.1238_1239insTCT	XP_024306029.1:p.Arg413delinsSerLeu
XR_932836.2:n.1383_1384insTCT
XR_932837.3:n.1383_1384insTCT
XR_932838.3:n.1383_1384insTCT
NM_001171.6:c.1202_1203insTCT MANE Select	NP_001162.5:p.Arg401delinsSerLeu