Canonical Allele Identifier: CA645547523

Gene: JAK2 INSL6

Linked Data

• COSMIC: COSM21414

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5078357_5078372delinsC , CM000671.2:g.5078357_5078372delinsC	GRCh38
NC_000009.11:g.5078357_5078372delinsC , CM000671.1:g.5078357_5078372delinsC	GRCh37
NC_000009.10:g.5068357_5068372delinsC	NCBI36
NG_009904.1:g.98113_98128delinsC , LRG_612:g.98113_98128delinsC
NG_046969.1:g.112339_112354delinsG

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.2044_2059delinsC (JAK2) MANE Select	ENSP00000371067.4:p.Ile682_Asp686del
ENST00000636127.1:c.2044_2059delinsC (JAK2)	ENSP00000489812.1:p.Ile682_Asp686del
ENST00000381652.3:c.2044_2059delinsC (JAK2)	ENSP00000371067.3:p.Ile682_Asp686del
NM_004972.3:c.2044_2059delinsC , LRG_612t1:c.2044_2059delinsC (JAK2)	NP_004963.1:p.Ile682_Asp686del
XM_011517701.1:c.377-63028_377-63013delinsG (INSL6)	XP_011516003.1:n.377-63028_377-63013delin...
XM_011517702.1:c.376+85807_376+85822delinsG (INSL6)	XP_011516004.1:n.376+85807_376+85822delin...
XR_929169.1:n.485-63028_485-63013delinsG (INSL6)
NM_001322194.1:c.2044_2059delinsC (JAK2)	NP_001309123.1:p.Ile682_Asp686del
NM_001322195.1:c.2044_2059delinsC (JAK2)	NP_001309124.1:p.Ile682_Asp686del
NM_001322196.1:c.2044_2059delinsC (JAK2)	NP_001309125.1:p.Ile682_Asp686del
NM_001322198.1:c.829_844delinsC (JAK2)	NP_001309127.1:p.Ile277_Asp281del
NM_001322199.1:c.829_844delinsC (JAK2)	NP_001309128.1:p.Ile277_Asp281del
NM_001322204.1:c.1597_1612delinsC (JAK2)	NP_001309133.1:p.Ile533_Asp537del
XM_011517702.3:c.376+85807_376+85822delinsG (INSL6)	XP_011516004.1:n.376+85807_376+85822delin...
NM_004972.4:c.2044_2059delinsC (JAK2) MANE Select	NP_004963.1:p.Ile682_Asp686del
NM_001322194.2:c.2044_2059delinsC (JAK2)	NP_001309123.1:p.Ile682_Asp686del
NM_001322195.2:c.2044_2059delinsC (JAK2)	NP_001309124.1:p.Ile682_Asp686del
NM_001322196.2:c.2044_2059delinsC (JAK2)	NP_001309125.1:p.Ile682_Asp686del
NM_001322198.2:c.829_844delinsC (JAK2)	NP_001309127.1:p.Ile277_Asp281del
NM_001322199.2:c.829_844delinsC (JAK2)	NP_001309128.1:p.Ile277_Asp281del
NM_001322204.2:c.1597_1612delinsC (JAK2)	NP_001309133.1:p.Ile533_Asp537del
NR_169763.1:n.2528_2543delinsC (JAK2)
NR_169764.1:n.2445_2460delinsC (JAK2)