Canonical Allele Identifier: CA975110605

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046337568
• gnomAD v3: 16-16149709-T-TTAAC
• gnomAD v4: 16-16149709-T-TTAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149711_16149714dup , CM000678.2:g.16149711_16149714dup	GRCh38
NC_000016.9:g.16243568_16243571dup , CM000678.1:g.16243568_16243571dup	GRCh37
NC_000016.8:g.16151069_16151072dup	NCBI36
NG_007558.2:g.78759_78762dup
NG_007558.3:g.78905_78908dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*1104_*1107dup	ENSP00000483331.2:n.*1104_*1107dup
ENST00000205557.12:c.*420_*423dup MANE Select	ENSP00000205557.7:n.*420_*423dup
ENST00000640696.1:c.1746_1749dup	ENSP00000492197.1:n.1746_1749dup
ENST00000205557.11:c.*420_*423dup	ENSP00000205557.7:n.*420_*423dup
ENST00000576204.5:n.1795_1798dup
ENST00000622290.4:c.*2141_*2144dup	ENSP00000483331.1:n.*2141_*2144dup
NM_001171.5:c.*420_*423dup	NP_001162.4:n.*420_*423dup
XM_011522479.1:c.*420_*423dup	XP_011520781.1:n.*420_*423dup
XM_011522480.1:c.*420_*423dup	XP_011520782.1:n.*420_*423dup
XM_011522481.1:c.*420_*423dup	XP_011520783.1:n.*420_*423dup
XR_933134.1:n.538+5421_538+5424dup
NM_001351800.1:c.*420_*423dup	NP_001338729.1:n.*420_*423dup
NR_147784.1:n.4594_4597dup
XM_011522479.2:c.*420_*423dup	XP_011520781.1:n.*420_*423dup
XM_011522481.3:c.*420_*423dup	XP_011520783.1:n.*420_*423dup
XM_017023212.1:c.*420_*423dup	XP_016878701.1:n.*420_*423dup
XM_024450261.1:c.*420_*423dup	XP_024306029.1:n.*420_*423dup
NM_001171.6:c.*420_*423dup MANE Select	NP_001162.5:n.*420_*423dup