Canonical Allele Identifier: CA278631663

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433309
• ClinVar RCV Id: RCV000499113
• dbSNP Id: rs72664231
• MyVariant Identifiers: chr16:g.16257011_16257013del (hg19) ; chr16:g.16163154_16163156del (hg38)
• PubMed: PMID:15894595

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163154_16163156del , CM000678.2:g.16163154_16163156del	GRCh38
NC_000016.9:g.16257011_16257013del , CM000678.1:g.16257011_16257013del	GRCh37
NC_000016.8:g.16164512_16164514del	NCBI36
NG_007558.2:g.65316_65318del
NG_007558.3:g.65462_65464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3343_3345del	ENSP00000483331.2:p.Leu1115del
ENST00000205557.12:c.3343_3345del MANE Select	ENSP00000205557.7:p.Leu1115del
ENST00000640696.1:c.321-1592_321-1590del	ENSP00000492197.1:n.321-1592_321-1590del
ENST00000205557.11:c.3343_3345del	ENSP00000205557.7:p.Leu1115del
ENST00000456970.6:c.3132-1592_3132-1590del	ENSP00000405002.2:n.3132-1592_3132-1590del
ENST00000622290.4:c.*552_*554del	ENSP00000483331.1:n.*552_*554del
NM_001171.5:c.3343_3345del	NP_001162.4:p.Leu1115del
XM_011522479.1:c.3310_3312del	XP_011520781.1:p.Leu1104del
XM_011522480.1:c.3001_3003del	XP_011520782.1:p.Leu1001del
XM_011522481.1:c.3001_3003del	XP_011520783.1:p.Leu1001del
XR_932836.1:n.3578_3580del
XR_932837.1:n.3543-1592_3543-1590del
XR_932838.1:n.3543-1592_3543-1590del
XR_933133.1:n.407+311_407+313del
XR_933134.1:n.754+311_754+313del
NM_001351800.1:c.3001_3003del	NP_001338729.1:p.Leu1001del
NR_147784.1:n.3169-1592_3169-1590del
XM_011522479.2:c.3310_3312del	XP_011520781.1:p.Leu1104del
XM_011522481.3:c.3001_3003del	XP_011520783.1:p.Leu1001del
XM_017023212.1:c.3175_3177del	XP_016878701.1:p.Leu1059del
XM_017023214.1:c.3307-1592_3307-1590del	XP_016878703.1:n.3307-1592_3307-1590del
XM_024450261.1:c.3379_3381del	XP_024306029.1:p.Leu1127del
XR_932836.2:n.3524_3526del
XR_932837.3:n.3488-1592_3488-1590del
XR_932838.3:n.3488-1592_3488-1590del
NM_001171.6:c.3343_3345del MANE Select	NP_001162.5:p.Leu1115del