Canonical Allele Identifier: CA7925762

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 265019
• ClinVar RCV Id: RCV000255723 ; RCV000499327
• dbSNP Id: rs767359198
• ExAC: 16:16263631 CAGAGGA / C
• gnomAD v2: 16-16263631-CAGAGGA-C
• gnomAD v3: 16-16169774-CAGAGGA-C
• gnomAD v4: 16-16169774-CAGAGGA-C
• MyVariant Identifiers: chr16:g.16263632_16263637del (hg19) ; chr16:g.16169776_16169781del (hg38) ; chr16:g.16169775_16169780del (hg38)
• PubMed: PMID:25264593

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169785_16169790del , CM000678.2:g.16169785_16169790del	GRCh38
NC_000016.9:g.16263642_16263647del , CM000678.1:g.16263642_16263647del	GRCh37
NC_000016.8:g.16171143_16171148del	NCBI36
NG_007558.2:g.58692_58697del
NG_007558.3:g.58838_58843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2861_2866del	ENSP00000483331.2:p.Phe954_Leu955del
ENST00000205557.12:c.2861_2866del MANE Select	ENSP00000205557.7:p.Phe954_Leu955del
ENST00000205557.11:c.2861_2866del	ENSP00000205557.7:p.Phe954_Leu955del
ENST00000456970.6:c.2686_2691del	ENSP00000405002.2:n.2686_2691del
ENST00000622290.4:c.*70_*75del	ENSP00000483331.1:n.*70_*75del
NM_001171.5:c.2861_2866del	NP_001162.4:p.Phe954_Leu955del
XM_011522479.1:c.2828_2833del	XP_011520781.1:p.Phe943_Leu944del
XM_011522480.1:c.2519_2524del	XP_011520782.1:p.Phe840_Leu841del
XM_011522481.1:c.2519_2524del	XP_011520783.1:p.Phe840_Leu841del
XR_932836.1:n.3096_3101del
XR_932837.1:n.3097_3102del
XR_932838.1:n.3097_3102del
NM_001351800.1:c.2519_2524del	NP_001338729.1:p.Phe840_Leu841del
NR_147784.1:n.2723_2728del
XM_011522479.2:c.2828_2833del	XP_011520781.1:p.Phe943_Leu944del
XM_011522481.3:c.2519_2524del	XP_011520783.1:p.Phe840_Leu841del
XM_017023212.1:c.2693_2698del	XP_016878701.1:p.Phe898_Leu899del
XM_017023214.1:c.2861_2866del	XP_016878703.1:p.Phe954_Leu955del
XM_024450261.1:c.2897_2902del	XP_024306029.1:p.Phe966_Leu967del
XR_932836.2:n.3042_3047del
XR_932837.3:n.3042_3047del
XR_932838.3:n.3042_3047del
NM_001171.6:c.2861_2866del MANE Select	NP_001162.5:p.Phe954_Leu955del