Canonical Allele Identifier: CA593178996

Gene: RET

Linked Data

• ClinVar Variation Id: 824772
• ClinVar RCV Id: RCV001022248 ; RCV001062924
• dbSNP Id: rs1488217326
• gnomAD v2: 10-43572742-T-TCTGCTGTTG
• gnomAD v3: 10-43077294-T-TCTGCTGTTG
• gnomAD v4: 10-43077294-T-TCTGCTGTTG
• MyVariant Identifiers: chr10:g.43572742_43572743insCTGCTGTTG (hg19) ; chr10:g.43077294_43077295insCTGCTGTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43077301_43077309dup , CM000672.2:g.43077301_43077309dup	GRCh38
NC_000010.10:g.43572749_43572757dup , CM000672.1:g.43572749_43572757dup	GRCh37
NC_000010.9:g.42892755_42892763dup	NCBI36
NG_007489.1:g.5233_5241dup , LRG_518:g.5233_5241dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.43_51dup	ENSP00000480088.2:p.Leu17_Leu18insLeuLeuLeu
ENST00000340058.6:c.43_51dup	ENSP00000344798.4:p.Leu17_Leu18insLeuLeuLeu
ENST00000355710.8:c.43_51dup MANE Select	ENSP00000347942.3:p.Leu17_Leu18insLeuLeuLeu
ENST00000671844.1:c.43_51dup	ENSP00000500541.1:p.Leu17_Leu18insLeuLeuLeu
ENST00000672389.1:c.43_51dup	ENSP00000500252.1:p.Leu17_Leu18insLeuLeuLeu
ENST00000340058.5:c.43_51dup	ENSP00000344798.4:p.Leu17_Leu18insLeuLeuLeu
ENST00000355710.7:c.43_51dup	ENSP00000347942.3:p.Leu17_Leu18insLeuLeuLeu
ENST00000498820.5:c.43_51dup	ENSP00000419080.1:p.Leu17_Leu18insLeuLeuLeu
ENST00000615310.4:c.43_51dup	ENSP00000480088.1:p.Leu17_Leu18insLeuLeuLeu
NM_020630.4:c.43_51dup , LRG_518t2:c.43_51dup	NP_065681.1:p.Leu17_Leu18insLeuLeuLeu
NM_020975.4:c.43_51dup , LRG_518t1:c.43_51dup	NP_066124.1:p.Leu17_Leu18insLeuLeuLeu
XM_011540027.1:c.43_51dup	XP_011538329.1:p.Leu17_Leu18insLeuLeuLeu
NM_020630.5:c.43_51dup	NP_065681.1:p.Leu17_Leu18insLeuLeuLeu
NM_020975.5:c.43_51dup	NP_066124.1:p.Leu17_Leu18insLeuLeuLeu
NM_020975.6:c.43_51dup MANE Select	NP_066124.1:p.Leu17_Leu18insLeuLeuLeu
NM_020630.6:c.43_51dup	NP_065681.1:p.Leu17_Leu18insLeuLeuLeu