Canonical Allele Identifier: CA2689309622

Gene: JAK2 INSL6

Linked Data

• gnomAD v4: 9-5078365-A-AGAAGACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5078377_5078384dup , CM000671.2:g.5078377_5078384dup	GRCh38
NC_000009.11:g.5078377_5078384dup , CM000671.1:g.5078377_5078384dup	GRCh37
NC_000009.10:g.5068377_5068384dup	NCBI36
NG_009904.1:g.98133_98140dup , LRG_612:g.98133_98140dup
NG_046969.1:g.112338_112345dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.2064_2071dup (JAK2) MANE Select	ENSP00000371067.4:p.Asn691ArgfsTer?
ENST00000636127.1:c.2064_2071dup (JAK2)	ENSP00000489812.1:p.Asn691ArgfsTer?
ENST00000381652.3:c.2064_2071dup (JAK2)	ENSP00000371067.3:p.Asn691ArgfsTer?
NM_004972.3:c.2064_2071dup , LRG_612t1:c.2064_2071dup (JAK2)	NP_004963.1:p.Asn691ArgfsTer?
XM_011517701.1:c.377-63029_377-63022dup (INSL6)	XP_011516003.1:n.377-63029_377-63022dup
XM_011517702.1:c.376+85806_376+85813dup (INSL6)	XP_011516004.1:n.376+85806_376+85813dup
XR_929169.1:n.485-63029_485-63022dup (INSL6)
NM_001322194.1:c.2064_2071dup (JAK2)	NP_001309123.1:p.Asn691ArgfsTer?
NM_001322195.1:c.2064_2071dup (JAK2)	NP_001309124.1:p.Asn691ArgfsTer?
NM_001322196.1:c.2064_2071dup (JAK2)	NP_001309125.1:p.Asn691ArgfsTer?
NM_001322198.1:c.849_856dup (JAK2)	NP_001309127.1:p.Asn286ArgfsTer?
NM_001322199.1:c.849_856dup (JAK2)	NP_001309128.1:p.Asn286ArgfsTer?
NM_001322204.1:c.1617_1624dup (JAK2)	NP_001309133.1:p.Asn542ArgfsTer?
XM_011517702.3:c.376+85806_376+85813dup (INSL6)	XP_011516004.1:n.376+85806_376+85813dup
NM_004972.4:c.2064_2071dup (JAK2) MANE Select	NP_004963.1:p.Asn691ArgfsTer?
NM_001322194.2:c.2064_2071dup (JAK2)	NP_001309123.1:p.Asn691ArgfsTer?
NM_001322195.2:c.2064_2071dup (JAK2)	NP_001309124.1:p.Asn691ArgfsTer?
NM_001322196.2:c.2064_2071dup (JAK2)	NP_001309125.1:p.Asn691ArgfsTer?
NM_001322198.2:c.849_856dup (JAK2)	NP_001309127.1:p.Asn286ArgfsTer?
NM_001322199.2:c.849_856dup (JAK2)	NP_001309128.1:p.Asn286ArgfsTer?
NM_001322204.2:c.1617_1624dup (JAK2)	NP_001309133.1:p.Asn542ArgfsTer?
NR_169763.1:n.2548_2555dup (JAK2)
NR_169764.1:n.2465_2472dup (JAK2)