Canonical Allele Identifier: CA645372585

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433423
• ClinVar RCV Id: RCV000499134
• MyVariant Identifiers: chr16:g.16249938_16258055del (hg19) ; chr16:g.16156081_16164198del (hg38)
• PubMed: PMID:17823974

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16156103_16164220del , CM000678.2:g.16156103_16164220del	GRCh38
NC_000016.9:g.16249960_16258077del , CM000678.1:g.16249960_16258077del	GRCh37
NC_000016.8:g.16157461_16165578del	NCBI36
NG_007558.2:g.64274_72391del
NG_007558.3:g.64420_72537del

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3307-1006_3883-227del
ENST00000205557.12:c.3307-1006_3883-1050del
ENST00000640696.1:c.320+1425_697-1050del
ENST00000205557.11:c.3307-1006_3883-1050del
ENST00000456970.6:c.3131+1425_3508-1050del
ENST00000622290.4:c.*516-1006_*1092-1050del
NM_001171.5:c.3307-1006_3883-1050del
XM_011522479.1:c.3274-1006_3850-1050del
XM_011522480.1:c.2965-1006_3541-1050del
XM_011522481.1:c.2965-1006_3541-1050del
XR_932836.1:n.3542-1006_4118-227del
XR_932837.1:n.3542+1425_3919-1050del
XR_932838.1:n.3542+1425_3919-227del
NM_001351800.1:c.2965-1006_3541-1050del
NR_147784.1:n.3168+1425_3545-1050del
XM_011522479.2:c.3274-1006_3850-1050del
XM_011522481.3:c.2965-1006_3541-1050del
XM_017023212.1:c.3139-1006_3715-1050del
XM_024450261.1:c.3343-1006_3919-1050del
XR_932836.2:n.3488-1006_4064-227del
XR_932837.3:n.3487+1425_3864-1050del
XR_932838.3:n.3487+1425_3864-227del
NM_001171.6:c.3307-1006_3883-1050del