Canonical Allele Identifier: CA645547524

Gene: JAK2 INSL6

Linked Data

• COSMIC: COSM214344

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5078358_5078360delinsGAG , CM000671.2:g.5078358_5078360delinsGAG	GRCh38
NC_000009.11:g.5078358_5078360delinsGAG , CM000671.1:g.5078358_5078360delinsGAG	GRCh37
NC_000009.10:g.5068358_5068360delinsGAG	NCBI36
NG_009904.1:g.98114_98116delinsGAG , LRG_612:g.98114_98116delinsGAG
NG_046969.1:g.112351_112353delinsCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.2045_2047delinsGAG (JAK2) MANE Select	ENSP00000371067.4:p.Ile682_Arg683delinsAr...
ENST00000636127.1:c.2045_2047delinsGAG (JAK2)	ENSP00000489812.1:p.Ile682_Arg683delinsAr...
ENST00000381652.3:c.2045_2047delinsGAG (JAK2)	ENSP00000371067.3:p.Ile682_Arg683delinsAr...
NM_004972.3:c.2045_2047delinsGAG , LRG_612t1:c.2045_2047delinsGAG (JAK2)	NP_004963.1:p.Ile682_Arg683delinsArgGly
XM_011517701.1:c.377-63016_377-63014delinsCTC (INSL6)	XP_011516003.1:n.377-63016_377-63014delin...
XM_011517702.1:c.376+85819_376+85821delinsCTC (INSL6)	XP_011516004.1:n.376+85819_376+85821delin...
XR_929169.1:n.485-63016_485-63014delinsCTC (INSL6)
NM_001322194.1:c.2045_2047delinsGAG (JAK2)	NP_001309123.1:p.Ile682_Arg683delinsArgGl...
NM_001322195.1:c.2045_2047delinsGAG (JAK2)	NP_001309124.1:p.Ile682_Arg683delinsArgGl...
NM_001322196.1:c.2045_2047delinsGAG (JAK2)	NP_001309125.1:p.Ile682_Arg683delinsArgGl...
NM_001322198.1:c.830_832delinsGAG (JAK2)	NP_001309127.1:p.Ile277_Arg278delinsArgGl...
NM_001322199.1:c.830_832delinsGAG (JAK2)	NP_001309128.1:p.Ile277_Arg278delinsArgGl...
NM_001322204.1:c.1598_1600delinsGAG (JAK2)	NP_001309133.1:p.Ile533_Arg534delinsArgGl...
XM_011517702.3:c.376+85819_376+85821delinsCTC (INSL6)	XP_011516004.1:n.376+85819_376+85821delin...
NM_004972.4:c.2045_2047delinsGAG (JAK2) MANE Select	NP_004963.1:p.Ile682_Arg683delinsArgGly
NM_001322194.2:c.2045_2047delinsGAG (JAK2)	NP_001309123.1:p.Ile682_Arg683delinsArgGl...
NM_001322195.2:c.2045_2047delinsGAG (JAK2)	NP_001309124.1:p.Ile682_Arg683delinsArgGl...
NM_001322196.2:c.2045_2047delinsGAG (JAK2)	NP_001309125.1:p.Ile682_Arg683delinsArgGl...
NM_001322198.2:c.830_832delinsGAG (JAK2)	NP_001309127.1:p.Ile277_Arg278delinsArgGl...
NM_001322199.2:c.830_832delinsGAG (JAK2)	NP_001309128.1:p.Ile277_Arg278delinsArgGl...
NM_001322204.2:c.1598_1600delinsGAG (JAK2)	NP_001309133.1:p.Ile533_Arg534delinsArgGl...
NR_169763.1:n.2529_2531delinsGAG (JAK2)
NR_169764.1:n.2446_2448delinsGAG (JAK2)