Canonical Allele Identifier: CA665362567

Gene: RET

Linked Data

• ClinVar Variation Id: 1061842
• ClinVar RCV Id: RCV001371496 ; RCV002456583
• dbSNP Id: rs1467944441
• gnomAD v4: 10-43077287-G-GGCTGCGTCTGCTGTTGCTGCT
• MyVariant Identifiers: chr10:g.43572735_43572736insGCTGCGTCTGCTGTTGCTGCT (hg19) ; chr10:g.43077287_43077288insGCTGCGTCTGCTGTTGCTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43077293_43077313dup , CM000672.2:g.43077293_43077313dup	GRCh38
NC_000010.10:g.43572741_43572761dup , CM000672.1:g.43572741_43572761dup	GRCh37
NC_000010.9:g.42892747_42892767dup	NCBI36
NG_007489.1:g.5225_5245dup , LRG_518:g.5225_5245dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.35_55dup	ENSP00000480088.2:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
ENST00000340058.6:c.35_55dup	ENSP00000344798.4:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
ENST00000355710.8:c.35_55dup MANE Select	ENSP00000347942.3:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
ENST00000671844.1:c.35_55dup	ENSP00000500541.1:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
ENST00000672389.1:c.35_55dup	ENSP00000500252.1:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
ENST00000340058.5:c.35_55dup	ENSP00000344798.4:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
ENST00000355710.7:c.35_55dup	ENSP00000347942.3:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
ENST00000498820.5:c.35_55dup	ENSP00000419080.1:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
ENST00000615310.4:c.35_55dup	ENSP00000480088.1:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
NM_020630.4:c.35_55dup , LRG_518t2:c.35_55dup	NP_065681.1:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
NM_020975.4:c.35_55dup , LRG_518t1:c.35_55dup	NP_066124.1:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
XM_011540027.1:c.35_55dup	XP_011538329.1:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
NM_020630.5:c.35_55dup	NP_065681.1:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
NM_020975.5:c.35_55dup	NP_066124.1:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
NM_020975.6:c.35_55dup MANE Select	NP_066124.1:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu
NM_020630.6:c.35_55dup	NP_065681.1:p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu