Canonical Allele Identifier: CA8979248

Gene: RAX

Linked Data

• dbSNP Id: rs747555161
• ExAC: 18:56936374 G / GGGC
• gnomAD v2: 18-56936374-G-GGGC
• gnomAD v3: 18-59269142-G-GGGC
• gnomAD v4: 18-59269142-G-GGGC
• MyVariant Identifiers: chr18:g.56936377_56936378insGGC (hg19) ; chr18:g.56936374_56936375insGGC (hg19) ; chr18:g.59269142_59269143insGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59269153_59269155dup , CM000680.2:g.59269153_59269155dup	GRCh38
NC_000018.9:g.56936385_56936387dup , CM000680.1:g.56936385_56936387dup	GRCh37
NC_000018.8:g.55087365_55087367dup	NCBI36
NG_013031.1:g.9249_9251dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000334889.4:c.900_902dup MANE Select	ENSP00000334813.3:p.Pro301_Ser302insPro
ENST00000256852.7:c.*331_*333dup	ENSP00000256852.7:n.*331_*333dup
ENST00000334889.3:c.900_902dup	ENSP00000334813.3:p.Pro301_Ser302insPro
NM_013435.2:c.900_902dup	NP_038463.2:p.Pro301_Ser302insPro
NM_013435.3:c.900_902dup MANE Select	NP_038463.2:p.Pro301_Ser302insPro