Canonical Allele Identifier: CA2579294396

Gene: JAK2 INSL6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5081778_5081795del , CM000671.2:g.5081778_5081795del	GRCh38
NC_000009.11:g.5081778_5081795del , CM000671.1:g.5081778_5081795del	GRCh37
NC_000009.10:g.5071778_5071795del	NCBI36
NG_009904.1:g.101534_101551del , LRG_612:g.101534_101551del
NG_046969.1:g.108922_108939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.2488_2505del (JAK2) MANE Select	ENSP00000371067.4:p.Leu830_Ala835del
ENST00000381652.3:c.2488_2505del (JAK2)	ENSP00000371067.3:p.Leu830_Ala835del
NM_004972.3:c.2488_2505del , LRG_612t1:c.2488_2505del (JAK2)	NP_004963.1:p.Leu830_Ala835del
XM_011517701.1:c.377-66445_377-66428del (INSL6)	XP_011516003.1:n.377-66445_377-66428del
XM_011517702.1:c.376+82390_376+82407del (INSL6)	XP_011516004.1:n.376+82390_376+82407del
XR_929169.1:n.485-66445_485-66428del (INSL6)
NM_001322194.1:c.2488_2505del (JAK2)	NP_001309123.1:p.Leu830_Ala835del
NM_001322195.1:c.2488_2505del (JAK2)	NP_001309124.1:p.Leu830_Ala835del
NM_001322196.1:c.2488_2505del (JAK2)	NP_001309125.1:p.Leu830_Ala835del
NM_001322198.1:c.1273_1290del (JAK2)	NP_001309127.1:p.Leu425_Ala430del
NM_001322199.1:c.1273_1290del (JAK2)	NP_001309128.1:p.Leu425_Ala430del
NM_001322204.1:c.2041_2058del (JAK2)	NP_001309133.1:p.Leu681_Ala686del
XM_011517702.3:c.376+82390_376+82407del (INSL6)	XP_011516004.1:n.376+82390_376+82407del
NM_004972.4:c.2488_2505del (JAK2) MANE Select	NP_004963.1:p.Leu830_Ala835del
NM_001322194.2:c.2488_2505del (JAK2)	NP_001309123.1:p.Leu830_Ala835del
NM_001322195.2:c.2488_2505del (JAK2)	NP_001309124.1:p.Leu830_Ala835del
NM_001322196.2:c.2488_2505del (JAK2)	NP_001309125.1:p.Leu830_Ala835del
NM_001322198.2:c.1273_1290del (JAK2)	NP_001309127.1:p.Leu425_Ala430del
NM_001322199.2:c.1273_1290del (JAK2)	NP_001309128.1:p.Leu425_Ala430del
NM_001322204.2:c.2041_2058del (JAK2)	NP_001309133.1:p.Leu681_Ala686del
NR_169763.1:n.2972_2989del (JAK2)
NR_169764.1:n.2889_2906del (JAK2)