Canonical Allele Identifier: CA188436579

Gene: JAK2 INSL6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5080910_5080913del , CM000671.2:g.5080910_5080913del	GRCh38
NC_000009.11:g.5080910_5080913del , CM000671.1:g.5080910_5080913del	GRCh37
NC_000009.10:g.5070910_5070913del	NCBI36
NG_009904.1:g.100666_100669del , LRG_612:g.100666_100669del
NG_046969.1:g.109815_109818del

Transcript Alleles

HGVS	Amino-acid Change
NM_004972.4:c.2434+227_2434+230del (JAK2) MANE Select	NP_004963.1:n.2434+227_2434+230del
ENST00000381652.4:c.2434+227_2434+230del (JAK2) MANE Select	ENSP00000371067.4:n.2434+227_2434+230del
NM_001322194.1:c.2434+227_2434+230del (JAK2)	NP_001309123.1:n.2434+227_2434+230del
NM_001322194.2:c.2434+227_2434+230del (JAK2)	NP_001309123.1:n.2434+227_2434+230del
NM_001322195.1:c.2434+227_2434+230del (JAK2)	NP_001309124.1:n.2434+227_2434+230del
NM_001322195.2:c.2434+227_2434+230del (JAK2)	NP_001309124.1:n.2434+227_2434+230del
NM_001322196.1:c.2434+227_2434+230del (JAK2)	NP_001309125.1:n.2434+227_2434+230del
NM_001322196.2:c.2434+227_2434+230del (JAK2)	NP_001309125.1:n.2434+227_2434+230del
NM_001322198.1:c.1219+227_1219+230del (JAK2)	NP_001309127.1:n.1219+227_1219+230del
NM_001322198.2:c.1219+227_1219+230del (JAK2)	NP_001309127.1:n.1219+227_1219+230del
NM_001322199.1:c.1219+227_1219+230del (JAK2)	NP_001309128.1:n.1219+227_1219+230del
NM_001322199.2:c.1219+227_1219+230del (JAK2)	NP_001309128.1:n.1219+227_1219+230del
NM_001322204.1:c.1987+227_1987+230del (JAK2)	NP_001309133.1:n.1987+227_1987+230del
NM_001322204.2:c.1987+227_1987+230del (JAK2)	NP_001309133.1:n.1987+227_1987+230del
NM_004972.3:c.2434+227_2434+230del , LRG_612t1:c.2434+227_2434+230del (JAK2)	NP_004963.1:n.2434+227_2434+230del
NR_169763.1:n.2918+227_2918+230del (JAK2)
NR_169764.1:n.2835+227_2835+230del (JAK2)
ENST00000381652.3:c.2434+227_2434+230del (JAK2)	ENSP00000371067.3:n.2434+227_2434+230del
XM_011517701.1:c.377-65552_377-65549del (INSL6)	XP_011516003.1:n.377-65552_377-65549del
XM_011517702.1:c.376+83283_376+83286del (INSL6)	XP_011516004.1:n.376+83283_376+83286del
XM_011517702.3:c.376+83283_376+83286del (INSL6)	XP_011516004.1:n.376+83283_376+83286del
XR_929169.1:n.485-65552_485-65549del (INSL6)