Canonical Allele Identifier: CA1151789

Gene: RIT1

Linked Data

• dbSNP Id: rs774164177
• ExAC: 1:155870449 CAATT / C
• gnomAD v2: 1-155870449-CAATT-C
• gnomAD v4: 1-155900658-CAATT-C
• MyVariant Identifiers: chr1:g.155870450_155870453del (hg19) ; chr1:g.155900659_155900662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155900661_155900664del , CM000663.2:g.155900661_155900664del	GRCh38
NC_000001.10:g.155870452_155870455del , CM000663.1:g.155870452_155870455del	GRCh37
NC_000001.9:g.154137076_154137079del	NCBI36
NG_033885.1:g.15741_15744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.*159-44_*159-41del	ENSP00000476319.1:n.*159-44_*159-41del
ENST00000539040.6:c.322-44_322-41del	ENSP00000441950.1:n.322-44_322-41del
ENST00000704061.1:c.*101-44_*101-41del	ENSP00000515664.1:n.*101-44_*101-41del
ENST00000368323.8:c.430-44_430-41del MANE Select	ENSP00000357306.3:n.430-44_430-41del
ENST00000651853.1:c.433-44_433-41del	ENSP00000498685.1:n.433-44_433-41del
ENST00000368322.7:c.481-44_481-41del	ENSP00000357305.3:n.481-44_481-41del
ENST00000368323.7:c.430-44_430-41del	ENSP00000357306.3:n.430-44_430-41del
ENST00000461050.5:c.*159-44_*159-41del	ENSP00000476319.1:n.*159-44_*159-41del
ENST00000539040.5:c.322-44_322-41del	ENSP00000441950.1:n.322-44_322-41del
ENST00000609492.1:c.430-44_430-41del	ENSP00000476612.1:n.430-44_430-41del
NM_001256820.1:c.322-44_322-41del	NP_001243749.1:n.322-44_322-41del
NM_001256821.1:c.481-44_481-41del	NP_001243750.1:n.481-44_481-41del
NM_006912.5:c.430-44_430-41del	NP_008843.1:n.430-44_430-41del
NM_001256820.2:c.322-44_322-41del	NP_001243749.1:n.322-44_322-41del
NM_001256821.2:c.481-44_481-41del	NP_001243750.1:n.481-44_481-41del
NM_006912.6:c.430-44_430-41del MANE Select	NP_008843.1:n.430-44_430-41del