Canonical Allele Identifier: CA2210134011

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150174_16150186delinsCCTTCTGGGCCAG , CM000678.2:g.16150174_16150186delinsCCTTCTGGGCCAG	GRCh38
NC_000016.9:g.16244031_16244043delinsCCTTCTGGGCCAG , CM000678.1:g.16244031_16244043delinsCCTTCTGGGCCAG	GRCh37
NC_000016.8:g.16151532_16151544delinsCCTTCTGGGCCAG	NCBI36
NG_007558.2:g.78286_78298delinsCTGGCCCAGAAGG
NG_007558.3:g.78432_78444delinsCTGGCCCAGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*631_*643delinsCTGGCCCAGAAGG	ENSP00000483331.2:n.*631_*643delinsCTGGCCCAGAAGG
ENST00000205557.12:c.4459_4471delinsCTGGCCCAGAAGG MANE Select	ENSP00000205557.7:p.Leu1487=
ENST00000640696.1:c.1273_1285delinsCTGGCCCAGAAGG	ENSP00000492197.1:p.Leu425=
ENST00000205557.11:c.4459_4471delinsCTGGCCCAGAAGG	ENSP00000205557.7:p.Leu1487=
ENST00000456970.6:c.4084_4096delinsCTGGCCCAGAAGG	ENSP00000405002.2:n.4084_4096delinsCTGGCCCAGAAGG
ENST00000576204.5:n.1322_1334delinsCTGGCCCAGAAGG
ENST00000622290.4:c.*1668_*1680delinsCTGGCCCAGAAGG	ENSP00000483331.1:n.*1668_*1680delinsCTGGCCCAGAAGG
NM_001171.5:c.4459_4471delinsCTGGCCCAGAAGG	NP_001162.4:p.Leu1487=
XM_011522479.1:c.4426_4438delinsCTGGCCCAGAAGG	XP_011520781.1:p.Leu1476=
XM_011522480.1:c.4117_4129delinsCTGGCCCAGAAGG	XP_011520782.1:p.Leu1373=
XM_011522481.1:c.4117_4129delinsCTGGCCCAGAAGG	XP_011520783.1:p.Leu1373=
XR_933134.1:n.538+5884_538+5896delinsCCTTCTGGGCCAG
NM_001351800.1:c.4117_4129delinsCTGGCCCAGAAGG	NP_001338729.1:p.Leu1373=
NR_147784.1:n.4121_4133delinsCTGGCCCAGAAGG
XM_011522479.2:c.4426_4438delinsCTGGCCCAGAAGG	XP_011520781.1:p.Leu1476=
XM_011522481.3:c.4117_4129delinsCTGGCCCAGAAGG	XP_011520783.1:p.Leu1373=
XM_017023212.1:c.4291_4303delinsCTGGCCCAGAAGG	XP_016878701.1:p.Leu1431=
XM_024450261.1:c.4495_4507delinsCTGGCCCAGAAGG	XP_024306029.1:p.Leu1499=
NM_001171.6:c.4459_4471delinsCTGGCCCAGAAGG MANE Select	NP_001162.5:p.Leu1487=