Canonical Allele Identifier: CA2631961084

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16149718-T-TGTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149721_16149724dup , CM000678.2:g.16149721_16149724dup	GRCh38
NC_000016.9:g.16243578_16243581dup , CM000678.1:g.16243578_16243581dup	GRCh37
NC_000016.8:g.16151079_16151082dup	NCBI36
NG_007558.2:g.78750_78753dup
NG_007558.3:g.78896_78899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*1095_*1098dup	ENSP00000483331.2:n.*1095_*1098dup
ENST00000205557.12:c.*411_*414dup MANE Select	ENSP00000205557.7:n.*411_*414dup
ENST00000640696.1:c.1737_1740dup	ENSP00000492197.1:n.1737_1740dup
ENST00000205557.11:c.*411_*414dup	ENSP00000205557.7:n.*411_*414dup
ENST00000576204.5:n.1786_1789dup
ENST00000622290.4:c.*2132_*2135dup	ENSP00000483331.1:n.*2132_*2135dup
NM_001171.5:c.*411_*414dup	NP_001162.4:n.*411_*414dup
XM_011522479.1:c.*411_*414dup	XP_011520781.1:n.*411_*414dup
XM_011522480.1:c.*411_*414dup	XP_011520782.1:n.*411_*414dup
XM_011522481.1:c.*411_*414dup	XP_011520783.1:n.*411_*414dup
XR_933134.1:n.538+5431_538+5434dup
NM_001351800.1:c.*411_*414dup	NP_001338729.1:n.*411_*414dup
NR_147784.1:n.4585_4588dup
XM_011522479.2:c.*411_*414dup	XP_011520781.1:n.*411_*414dup
XM_011522481.3:c.*411_*414dup	XP_011520783.1:n.*411_*414dup
XM_017023212.1:c.*411_*414dup	XP_016878701.1:n.*411_*414dup
XM_024450261.1:c.*411_*414dup	XP_024306029.1:n.*411_*414dup
NM_001171.6:c.*411_*414dup MANE Select	NP_001162.5:n.*411_*414dup