Canonical Allele Identifier: CA1950112800

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319670_6319672delinsGTC , CM000673.2:g.6319670_6319672delinsGTC	GRCh38
NC_000011.9:g.6340900_6340902delinsGTC , CM000673.1:g.6340900_6340902delinsGTC	GRCh37
NC_000011.8:g.6297476_6297478delinsGTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-108_385-106delinsGAC MANE Select	ENSP00000307292.3:n.385-108_385-106delinsGAC
ENST00000303927.3:c.385-108_385-106delinsGAC	ENSP00000307292.3:n.385-108_385-106delinsGAC
ENST00000524852.1:n.64-1_65delinsGAC
ENST00000530979.1:c.465_467delinsGAC	ENSP00000432047.1:p.Gln155=
ENST00000532354.1:n.391_393delinsGAC
NM_145040.2:c.385-108_385-106delinsGAC	NP_659477.2:n.385-108_385-106delinsGAC
XR_242848.3:n.109_111delinsGTC
XR_242849.3:n.109_111delinsGTC
XR_428874.2:n.109_111delinsGTC
XR_930992.1:n.109_111delinsGTC
XR_930994.1:n.109_111delinsGTC
XR_930995.1:n.109_111delinsGTC
XR_930996.1:n.109_111delinsGTC
XR_930997.1:n.720+1450_720+1452delinsGTC
XR_930998.1:n.109_111delinsGTC
XR_930999.1:n.109_111delinsGTC
XR_001748105.2:n.128_130delinsGTC
XR_001748106.1:n.281_283delinsGTC
XR_001748108.2:n.128_130delinsGTC
XR_001748109.2:n.137_139delinsGTC
XR_242848.4:n.530_532delinsGTC
XR_930992.3:n.128_130delinsGTC
XR_930994.3:n.128_130delinsGTC
XR_930995.3:n.128_130delinsGTC
XR_930998.3:n.128_130delinsGTC
NM_145040.3:c.385-108_385-106delinsGAC MANE Select	NP_659477.2:n.385-108_385-106delinsGAC