Canonical Allele Identifier: CA2260466773
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs2085431194
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404722_42404723insGGT , CM000679.2:g.42404722_42404723insGGT GRCh38
NC_000017.10:g.40556740_40556741insGGT , CM000679.1:g.40556740_40556741insGGT GRCh37
NC_000017.9:g.37810266_37810267insGGT NCBI36
NG_015845.1:g.23598_23599insACC
NG_015845.2:g.23598_23599insACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1137_1138insACC MANE Select ENSP00000349541.4:p.Ser379_Asp380insThr
ENST00000357037.5:c.1137_1138insACC ENSP00000349541.4:p.Ser379_Asp380insThr
NM_012232.5:c.1137_1138insACC NP_036364.2:p.Ser379_Asp380insThr
NM_012232.6:c.1137_1138insACC MANE Select NP_036364.2:p.Ser379_Asp380insThr
Search 100 bp 5'
Search 100 bp 3'