Canonical Allele Identifier: CA1950112645

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319392_6319404delinsACCTTCTGCAATC , CM000673.2:g.6319392_6319404delinsACCTTCTGCAATC	GRCh38
NC_000011.9:g.6340622_6340634delinsACCTTCTGCAATC , CM000673.1:g.6340622_6340634delinsACCTTCTGCAATC	GRCh37
NC_000011.8:g.6297198_6297210delinsACCTTCTGCAATC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.545_557delinsGATTGCAGAAGGT MANE Select	ENSP00000307292.3:p.Gly182=
ENST00000303927.3:c.545_557delinsGATTGCAGAAGGT	ENSP00000307292.3:p.Gly182=
ENST00000524852.1:n.331_343delinsGATTGCAGAAGGT
ENST00000530979.1:c.641_653delinsGATTGCAGAAGGT	ENSP00000432047.1:p.Gly214=
ENST00000532354.1:n.567_579delinsGATTGCAGAAGGT
NM_145040.2:c.545_557delinsGATTGCAGAAGGT	NP_659477.2:p.Gly182=
XR_930997.1:n.720+1172_720+1184delinsACCTTCTGCAATC
XR_001748106.1:n.3_15delinsACCTTCTGCAATC
XR_242848.4:n.252_264delinsACCTTCTGCAATC
NM_145040.3:c.545_557delinsGATTGCAGAAGGT MANE Select	NP_659477.2:p.Gly182=