Canonical Allele Identifier: CA593179000

Gene: RET

Linked Data

• ClinVar Variation Id: 648453
• ClinVar RCV Id: RCV000803187 ; RCV002345796
• dbSNP Id: rs768132465
• gnomAD v2: 10-43572749-T-TTGC
• gnomAD v3: 10-43077301-T-TTGC
• gnomAD v4: 10-43077301-T-TTGC
• MyVariant Identifiers: chr10:g.43572752_43572753insTGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43077314_43077316dup , CM000672.2:g.43077314_43077316dup	GRCh38
NC_000010.10:g.43572762_43572764dup , CM000672.1:g.43572762_43572764dup	GRCh37
NC_000010.9:g.42892768_42892770dup	NCBI36
NG_007489.1:g.5246_5248dup , LRG_518:g.5246_5248dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.56_58dup	ENSP00000480088.2:p.Leu19_Pro20insLeu
ENST00000340058.6:c.56_58dup	ENSP00000344798.4:p.Leu19_Pro20insLeu
ENST00000355710.8:c.56_58dup MANE Select	ENSP00000347942.3:p.Leu19_Pro20insLeu
ENST00000671844.1:c.56_58dup	ENSP00000500541.1:p.Leu19_Pro20insLeu
ENST00000672389.1:c.56_58dup	ENSP00000500252.1:p.Leu19_Pro20insLeu
ENST00000340058.5:c.56_58dup	ENSP00000344798.4:p.Leu19_Pro20insLeu
ENST00000355710.7:c.56_58dup	ENSP00000347942.3:p.Leu19_Pro20insLeu
ENST00000498820.5:c.56_58dup	ENSP00000419080.1:p.Leu19_Pro20insLeu
ENST00000615310.4:c.56_58dup	ENSP00000480088.1:p.Leu19_Pro20insLeu
NM_020630.4:c.56_58dup , LRG_518t2:c.56_58dup	NP_065681.1:p.Leu19_Pro20insLeu
NM_020975.4:c.56_58dup , LRG_518t1:c.56_58dup	NP_066124.1:p.Leu19_Pro20insLeu
XM_011540027.1:c.56_58dup	XP_011538329.1:p.Leu19_Pro20insLeu
NM_020630.5:c.56_58dup	NP_065681.1:p.Leu19_Pro20insLeu
NM_020975.5:c.56_58dup	NP_066124.1:p.Leu19_Pro20insLeu
NM_020975.6:c.56_58dup MANE Select	NP_066124.1:p.Leu19_Pro20insLeu
NM_020630.6:c.56_58dup	NP_065681.1:p.Leu19_Pro20insLeu