Canonical Allele Identifier: CA4972179

Gene: JAK2 INSL6

Linked Data

• dbSNP Id: rs766855361
• ExAC: 9:5081875 A / AT
• gnomAD v2: 9-5081875-A-AT
• MyVariant Identifiers: chr9:g.5081875_5081876insT (hg19) ; chr9:g.5081875_5081876insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5081881dup , CM000671.2:g.5081881dup	GRCh38
NC_000009.11:g.5081881dup , CM000671.1:g.5081881dup	GRCh37
NC_000009.10:g.5071881dup	NCBI36
NG_009904.1:g.101637dup , LRG_612:g.101637dup
NG_046969.1:g.108835dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.2571+20dup (JAK2) MANE Select	ENSP00000371067.4:n.2571+20dup
ENST00000381652.3:c.2571+20dup (JAK2)	ENSP00000371067.3:n.2571+20dup
NM_004972.3:c.2571+20dup , LRG_612t1:c.2571+20dup (JAK2)	NP_004963.1:n.2571+20dup
XM_011517701.1:c.377-66532dup (INSL6)	XP_011516003.1:n.377-66532dup
XM_011517702.1:c.376+82303dup (INSL6)	XP_011516004.1:n.376+82303dup
XR_929169.1:n.485-66532dup (INSL6)
NM_001322194.1:c.2571+20dup (JAK2)	NP_001309123.1:n.2571+20dup
NM_001322195.1:c.2571+20dup (JAK2)	NP_001309124.1:n.2571+20dup
NM_001322196.1:c.2571+20dup (JAK2)	NP_001309125.1:n.2571+20dup
NM_001322198.1:c.1356+20dup (JAK2)	NP_001309127.1:n.1356+20dup
NM_001322199.1:c.1356+20dup (JAK2)	NP_001309128.1:n.1356+20dup
NM_001322204.1:c.2124+20dup (JAK2)	NP_001309133.1:n.2124+20dup
XM_011517702.3:c.376+82303dup (INSL6)	XP_011516004.1:n.376+82303dup
NM_004972.4:c.2571+20dup (JAK2) MANE Select	NP_004963.1:n.2571+20dup
NM_001322194.2:c.2571+20dup (JAK2)	NP_001309123.1:n.2571+20dup
NM_001322195.2:c.2571+20dup (JAK2)	NP_001309124.1:n.2571+20dup
NM_001322196.2:c.2571+20dup (JAK2)	NP_001309125.1:n.2571+20dup
NM_001322198.2:c.1356+20dup (JAK2)	NP_001309127.1:n.1356+20dup
NM_001322199.2:c.1356+20dup (JAK2)	NP_001309128.1:n.1356+20dup
NM_001322204.2:c.2124+20dup (JAK2)	NP_001309133.1:n.2124+20dup
NR_169763.1:n.3055+20dup (JAK2)
NR_169764.1:n.2972+20dup (JAK2)