Canonical Allele Identifier: CA278666945
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433398
ClinVar RCV Id: RCV000499283
dbSNP Id: rs72664205
MyVariant Identifiers: chr16:g.16297265del (hg19) chr16:g.16203408del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16203408del , CM000678.2:g.16203408del GRCh38
NC_000016.9:g.16297265del , CM000678.1:g.16297265del GRCh37
NC_000016.8:g.16204766del NCBI36
NG_007558.2:g.25064del
NG_007558.3:g.25210del

Transcript Alleles

HGVS Amino-acid change
ENST00000574094.6:c.998+2del ENSP00000507301.1:n.998+2del
ENST00000622290.5:c.998+2del ENSP00000483331.2:n.998+2del
ENST00000205557.12:c.998+2del MANE Select ENSP00000205557.7:n.998+2del
ENST00000205557.11:c.998+2del ENSP00000205557.7:n.998+2del
ENST00000456970.6:c.998+2del ENSP00000405002.2:n.998+2del
ENST00000574094.5:n.1094+2del
ENST00000577103.1:c.*865+2del ENSP00000459243.1:n.*865+2del
ENST00000622290.4:c.998+2del ENSP00000483331.1:n.998+2del
NM_001171.5:c.998+2del NP_001162.4:n.998+2del
XM_011522479.1:c.998+2del XP_011520781.1:n.998+2del
XM_011522480.1:c.656+2del XP_011520782.1:n.656+2del
XM_011522481.1:c.656+2del XP_011520783.1:n.656+2del
XM_011522482.1:c.998+2del XP_011520784.1:n.998+2del
XR_932836.1:n.1233+2del
XR_932837.1:n.1234+2del
XR_932838.1:n.1234+2del
NM_001351800.1:c.656+2del NP_001338729.1:n.656+2del
NR_147784.1:n.1035+2del
XM_011522479.2:c.998+2del XP_011520781.1:n.998+2del
XM_011522481.3:c.656+2del XP_011520783.1:n.656+2del
XM_011522482.3:c.998+2del XP_011520784.1:n.998+2del
XM_017023212.1:c.998+2del XP_016878701.1:n.998+2del
XM_017023214.1:c.998+2del XP_016878703.1:n.998+2del
XM_024450261.1:c.1034+2del XP_024306029.1:n.1034+2del
XR_932836.2:n.1179+2del
XR_932837.3:n.1179+2del
XR_932838.3:n.1179+2del
NM_001171.6:c.998+2del MANE Select NP_001162.5:n.998+2del
Search 100 bp 5'
Search 100 bp 3'