Canonical Allele Identifier: CA772120449

Gene: CAVIN1

Linked Data

• dbSNP Id: rs1470468599
• MyVariant Identifiers: chr17:g.40556723_40556750del (hg19) ; chr17:g.42404705_42404732del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404707_42404734del , CM000679.2:g.42404707_42404734del	GRCh38
NC_000017.10:g.40556725_40556752del , CM000679.1:g.40556725_40556752del	GRCh37
NC_000017.9:g.37810251_37810278del	NCBI36
NG_015845.1:g.23589_23616del
NG_015845.2:g.23589_23616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1128_1155del MANE Select	ENSP00000349541.4:p.Glu377ArgfsTer?
ENST00000357037.5:c.1128_1155del	ENSP00000349541.4:p.Glu377ArgfsTer?
NM_012232.5:c.1128_1155del	NP_036364.2:p.Glu377ArgfsTer?
NM_012232.6:c.1128_1155del MANE Select	NP_036364.2:p.Glu377ArgfsTer?