Canonical Allele Identifier: CA718586221

Gene: ABCC6

Linked Data

• dbSNP Id: rs1445286931
• gnomAD v3: 16-16149746-AGT-A
• gnomAD v4: 16-16149746-AGT-A
• MyVariant Identifiers: chr16:g.16243604_16243605del (hg19) ; chr16:g.16149747_16149748del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149749_16149750del , CM000678.2:g.16149749_16149750del	GRCh38
NC_000016.9:g.16243606_16243607del , CM000678.1:g.16243606_16243607del	GRCh37
NC_000016.8:g.16151107_16151108del	NCBI36
NG_007558.2:g.78724_78725del
NG_007558.3:g.78870_78871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*1069_*1070del	ENSP00000483331.2:n.*1069_*1070del
ENST00000205557.12:c.*385_*386del MANE Select	ENSP00000205557.7:n.*385_*386del
ENST00000640696.1:c.1711_1712del	ENSP00000492197.1:n.1711_1712del
ENST00000205557.11:c.*385_*386del	ENSP00000205557.7:n.*385_*386del
ENST00000576204.5:n.1760_1761del
ENST00000622290.4:c.*2106_*2107del	ENSP00000483331.1:n.*2106_*2107del
NM_001171.5:c.*385_*386del	NP_001162.4:n.*385_*386del
XM_011522479.1:c.*385_*386del	XP_011520781.1:n.*385_*386del
XM_011522480.1:c.*385_*386del	XP_011520782.1:n.*385_*386del
XM_011522481.1:c.*385_*386del	XP_011520783.1:n.*385_*386del
XR_933134.1:n.538+5459_538+5460del
NM_001351800.1:c.*385_*386del	NP_001338729.1:n.*385_*386del
NR_147784.1:n.4559_4560del
XM_011522479.2:c.*385_*386del	XP_011520781.1:n.*385_*386del
XM_011522481.3:c.*385_*386del	XP_011520783.1:n.*385_*386del
XM_017023212.1:c.*385_*386del	XP_016878701.1:n.*385_*386del
XM_024450261.1:c.*385_*386del	XP_024306029.1:n.*385_*386del
NM_001171.6:c.*385_*386del MANE Select	NP_001162.5:n.*385_*386del