Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5128079_5128080insGT , CM000671.2:g.5128079_5128080insGT	GRCh38
NC_000009.11:g.5128079_5128080insGT , CM000671.1:g.5128079_5128080insGT	GRCh37
NC_000009.10:g.5118079_5118080insGT	NCBI36
NG_009904.1:g.147835_147836insGT , LRG_612:g.147835_147836insGT
NG_046969.1:g.62632_62633insCA

Transcript Alleles

HGVS	Amino-acid Change
NM_004972.4:c.1288_1289insGT (JAK2) MANE Select	NP_004963.1:n.1288_1289insGT
ENST00000381652.4:c.1288_1289insGT (JAK2) MANE Select	ENSP00000371067.4:n.1288_1289insGT
NM_001322194.1:c.1288_1289insGT (JAK2)	NP_001309123.1:n.1288_1289insGT
NM_001322194.2:c.1288_1289insGT (JAK2)	NP_001309123.1:n.1288_1289insGT
NM_001322195.1:c.1288_1289insGT (JAK2)	NP_001309124.1:n.1288_1289insGT
NM_001322195.2:c.1288_1289insGT (JAK2)	NP_001309124.1:n.1288_1289insGT
NM_001322196.1:c.1288_1289insGT (JAK2)	NP_001309125.1:n.1288_1289insGT
NM_001322196.2:c.1288_1289insGT (JAK2)	NP_001309125.1:n.1288_1289insGT
NM_001322198.1:c.1288_1289insGT (JAK2)	NP_001309127.1:n.1288_1289insGT
NM_001322198.2:c.1288_1289insGT (JAK2)	NP_001309127.1:n.1288_1289insGT
NM_001322199.1:c.1288_1289insGT (JAK2)	NP_001309128.1:n.1288_1289insGT
NM_001322199.2:c.1288_1289insGT (JAK2)	NP_001309128.1:n.1288_1289insGT
NM_001322204.1:c.1288_1289insGT (JAK2)	NP_001309133.1:n.1288_1289insGT
NM_001322204.2:c.1288_1289insGT (JAK2)	NP_001309133.1:n.1288_1289insGT
NM_004972.3:c.1288_1289insGT , LRG_612t1:c.1288_1289insGT (JAK2)	NP_004963.1:n.1288_1289insGT
NR_169763.1:n.5171_5172insGT (JAK2)
NR_169764.1:n.5088_5089insGT (JAK2)
ENST00000381652.3:c.1288_1289insGT (JAK2)	ENSP00000371067.3:n.1288_1289insGT
ENST00000649639.1:c.11-3568_11-3567insCA (INSL6)	ENSP00000497955.1:n.11-3568_11-3567insCA
XM_011517701.1:c.376+36100_376+36101insCA (INSL6)	XP_011516003.1:n.376+36100_376+36101insCA
XM_011517702.1:c.376+36100_376+36101insCA (INSL6)	XP_011516004.1:n.376+36100_376+36101insCA
XM_011517702.3:c.376+36100_376+36101insCA (INSL6)	XP_011516004.1:n.376+36100_376+36101insCA
XR_929169.1:n.484+36100_484+36101insCA (INSL6)

HGVS	Amino-acid Change
NM_004972.4:c.1288_1289insGT (JAK2) MANE Select	NP_004963.1:n.1288_1289insGT
ENST00000381652.4:c.1288_1289insGT (JAK2) MANE Select	ENSP00000371067.4:n.1288_1289insGT
NM_001322194.1:c.1288_1289insGT (JAK2)	NP_001309123.1:n.1288_1289insGT
NM_001322194.2:c.1288_1289insGT (JAK2)	NP_001309123.1:n.1288_1289insGT
NM_001322195.1:c.1288_1289insGT (JAK2)	NP_001309124.1:n.1288_1289insGT
NM_001322195.2:c.1288_1289insGT (JAK2)	NP_001309124.1:n.1288_1289insGT
NM_001322196.1:c.1288_1289insGT (JAK2)	NP_001309125.1:n.1288_1289insGT
NM_001322196.2:c.1288_1289insGT (JAK2)	NP_001309125.1:n.1288_1289insGT
NM_001322198.1:c.1288_1289insGT (JAK2)	NP_001309127.1:n.1288_1289insGT
NM_001322198.2:c.1288_1289insGT (JAK2)	NP_001309127.1:n.1288_1289insGT
NM_001322199.1:c.1288_1289insGT (JAK2)	NP_001309128.1:n.1288_1289insGT
NM_001322199.2:c.1288_1289insGT (JAK2)	NP_001309128.1:n.1288_1289insGT
NM_001322204.1:c.1288_1289insGT (JAK2)	NP_001309133.1:n.1288_1289insGT
NM_001322204.2:c.1288_1289insGT (JAK2)	NP_001309133.1:n.1288_1289insGT
NM_004972.3:c.1288_1289insGT , LRG_612t1:c.1288_1289insGT (JAK2)	NP_004963.1:n.1288_1289insGT
NR_169763.1:n.5171_5172insGT (JAK2)
NR_169764.1:n.5088_5089insGT (JAK2)
ENST00000381652.3:c.1288_1289insGT (JAK2)	ENSP00000371067.3:n.1288_1289insGT
ENST00000649639.1:c.11-3568_11-3567insCA (INSL6)	ENSP00000497955.1:n.11-3568_11-3567insCA
XM_011517701.1:c.376+36100_376+36101insCA (INSL6)	XP_011516003.1:n.376+36100_376+36101insCA
XM_011517702.1:c.376+36100_376+36101insCA (INSL6)	XP_011516004.1:n.376+36100_376+36101insCA
XM_011517702.3:c.376+36100_376+36101insCA (INSL6)	XP_011516004.1:n.376+36100_376+36101insCA
XR_929169.1:n.484+36100_484+36101insCA (INSL6)