Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5128116_5128121dup , CM000671.2:g.5128116_5128121dup	GRCh38
NC_000009.11:g.5128116_5128121dup , CM000671.1:g.5128116_5128121dup	GRCh37
NC_000009.10:g.5118116_5118121dup	NCBI36
NG_009904.1:g.147872_147877dup , LRG_612:g.147872_147877dup
NG_046969.1:g.62625_62630dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004972.4:c.1325_1330dup (JAK2) MANE Select	NP_004963.1:n.1325_1330dup
ENST00000381652.4:c.1325_1330dup (JAK2) MANE Select	ENSP00000371067.4:n.1325_1330dup
NM_001322194.1:c.1325_1330dup (JAK2)	NP_001309123.1:n.1325_1330dup
NM_001322194.2:c.1325_1330dup (JAK2)	NP_001309123.1:n.1325_1330dup
NM_001322195.1:c.1325_1330dup (JAK2)	NP_001309124.1:n.1325_1330dup
NM_001322195.2:c.1325_1330dup (JAK2)	NP_001309124.1:n.1325_1330dup
NM_001322196.1:c.1325_1330dup (JAK2)	NP_001309125.1:n.1325_1330dup
NM_001322196.2:c.1325_1330dup (JAK2)	NP_001309125.1:n.1325_1330dup
NM_001322198.1:c.1325_1330dup (JAK2)	NP_001309127.1:n.1325_1330dup
NM_001322198.2:c.1325_1330dup (JAK2)	NP_001309127.1:n.1325_1330dup
NM_001322199.1:c.1325_1330dup (JAK2)	NP_001309128.1:n.1325_1330dup
NM_001322199.2:c.1325_1330dup (JAK2)	NP_001309128.1:n.1325_1330dup
NM_001322204.1:c.1325_1330dup (JAK2)	NP_001309133.1:n.1325_1330dup
NM_001322204.2:c.1325_1330dup (JAK2)	NP_001309133.1:n.1325_1330dup
NM_004972.3:c.1325_1330dup , LRG_612t1:c.1325_1330dup (JAK2)	NP_004963.1:n.1325_1330dup
NR_169763.1:n.5208_5213dup (JAK2)
NR_169764.1:n.5125_5130dup (JAK2)
ENST00000381652.3:c.1325_1330dup (JAK2)	ENSP00000371067.3:n.1325_1330dup
ENST00000649639.1:c.11-3575_11-3570dup (INSL6)	ENSP00000497955.1:n.11-3575_11-3570dup
XM_011517701.1:c.376+36093_376+36098dup (INSL6)	XP_011516003.1:n.376+36093_376+36098dup
XM_011517702.1:c.376+36093_376+36098dup (INSL6)	XP_011516004.1:n.376+36093_376+36098dup
XM_011517702.3:c.376+36093_376+36098dup (INSL6)	XP_011516004.1:n.376+36093_376+36098dup
XR_929169.1:n.484+36093_484+36098dup (INSL6)

HGVS	Amino-acid Change
NM_004972.4:c.1325_1330dup (JAK2) MANE Select	NP_004963.1:n.1325_1330dup
ENST00000381652.4:c.1325_1330dup (JAK2) MANE Select	ENSP00000371067.4:n.1325_1330dup
NM_001322194.1:c.1325_1330dup (JAK2)	NP_001309123.1:n.1325_1330dup
NM_001322194.2:c.1325_1330dup (JAK2)	NP_001309123.1:n.1325_1330dup
NM_001322195.1:c.1325_1330dup (JAK2)	NP_001309124.1:n.1325_1330dup
NM_001322195.2:c.1325_1330dup (JAK2)	NP_001309124.1:n.1325_1330dup
NM_001322196.1:c.1325_1330dup (JAK2)	NP_001309125.1:n.1325_1330dup
NM_001322196.2:c.1325_1330dup (JAK2)	NP_001309125.1:n.1325_1330dup
NM_001322198.1:c.1325_1330dup (JAK2)	NP_001309127.1:n.1325_1330dup
NM_001322198.2:c.1325_1330dup (JAK2)	NP_001309127.1:n.1325_1330dup
NM_001322199.1:c.1325_1330dup (JAK2)	NP_001309128.1:n.1325_1330dup
NM_001322199.2:c.1325_1330dup (JAK2)	NP_001309128.1:n.1325_1330dup
NM_001322204.1:c.1325_1330dup (JAK2)	NP_001309133.1:n.1325_1330dup
NM_001322204.2:c.1325_1330dup (JAK2)	NP_001309133.1:n.1325_1330dup
NM_004972.3:c.1325_1330dup , LRG_612t1:c.1325_1330dup (JAK2)	NP_004963.1:n.1325_1330dup
NR_169763.1:n.5208_5213dup (JAK2)
NR_169764.1:n.5125_5130dup (JAK2)
ENST00000381652.3:c.1325_1330dup (JAK2)	ENSP00000371067.3:n.1325_1330dup
ENST00000649639.1:c.11-3575_11-3570dup (INSL6)	ENSP00000497955.1:n.11-3575_11-3570dup
XM_011517701.1:c.376+36093_376+36098dup (INSL6)	XP_011516003.1:n.376+36093_376+36098dup
XM_011517702.1:c.376+36093_376+36098dup (INSL6)	XP_011516004.1:n.376+36093_376+36098dup
XM_011517702.3:c.376+36093_376+36098dup (INSL6)	XP_011516004.1:n.376+36093_376+36098dup
XR_929169.1:n.484+36093_484+36098dup (INSL6)