Canonical Allele Identifier: CA7925794

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433444
• ClinVar RCV Id: RCV000499216
• dbSNP Id: rs765405352
• ExAC: 16:16267140 CCCTG / C
• gnomAD v2: 16-16267140-CCCTG-C
• gnomAD v3: 16-16173283-CCCTG-C
• gnomAD v4: 16-16173283-CCCTG-C
• MyVariant Identifiers: chr16:g.16267141_16267144del (hg19) ; chr16:g.16173284_16173287del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16173286_16173289del , CM000678.2:g.16173286_16173289del	GRCh38
NC_000016.9:g.16267143_16267146del , CM000678.1:g.16267143_16267146del	GRCh37
NC_000016.8:g.16174644_16174647del	NCBI36
NG_007558.2:g.55185_55188del
NG_007558.3:g.55331_55334del

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.2784_2787del	ENSP00000483331.2:p.Arg929Ter
ENST00000205557.12:c.2784_2787del MANE Select	ENSP00000205557.7:p.Arg929Ter
ENST00000205557.11:c.2784_2787del	ENSP00000205557.7:p.Arg929Ter
ENST00000456970.6:c.2609_2612del	ENSP00000405002.2:p.Ala870GlyfsTer?
ENST00000576683.1:n.271_274del
ENST00000622290.4:c.2609_2612del	ENSP00000483331.1:p.Ala870GlyfsTer?
NM_001171.5:c.2784_2787del	NP_001162.4:p.Arg929Ter
XM_011522479.1:c.2751_2754del	XP_011520781.1:p.Arg918Ter
XM_011522480.1:c.2442_2445del	XP_011520782.1:p.Arg815Ter
XM_011522481.1:c.2442_2445del	XP_011520783.1:p.Arg815Ter
XR_932836.1:n.3019_3022del
XR_932837.1:n.3020_3023del
XR_932838.1:n.3020_3023del
NM_001351800.1:c.2442_2445del	NP_001338729.1:p.Arg815Ter
NR_147784.1:n.2646_2649del
XM_011522479.2:c.2751_2754del	XP_011520781.1:p.Arg918Ter
XM_011522481.3:c.2442_2445del	XP_011520783.1:p.Arg815Ter
XM_017023212.1:c.2616_2619del	XP_016878701.1:p.Arg873Ter
XM_017023214.1:c.2784_2787del	XP_016878703.1:p.Arg929Ter
XM_024450261.1:c.2820_2823del	XP_024306029.1:p.Arg941Ter
XR_932836.2:n.2965_2968del
XR_932837.3:n.2965_2968del
XR_932838.3:n.2965_2968del
NM_001171.6:c.2784_2787del MANE Select	NP_001162.5:p.Arg929Ter