Canonical Allele Identifier: CA891842060

Gene: JAK2 INSL6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5073770_5073772delinsTTT , CM000671.2:g.5073770_5073772delinsTTT	GRCh38
NC_000009.11:g.5073770_5073772delinsTTT , CM000671.1:g.5073770_5073772delinsTTT	GRCh37
NC_000009.10:g.5063770_5063772delinsTTT	NCBI36
NG_009904.1:g.93526_93528delinsTTT , LRG_612:g.93526_93528delinsTTT
NG_046969.1:g.116939_116941delinsAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.1849_1851delinsTTT (JAK2) MANE Select	ENSP00000371067.4:p.Val617Phe
ENST00000636127.1:c.1849_1851delinsTTT (JAK2)	ENSP00000489812.1:p.Val617Phe
ENST00000381652.3:c.1849_1851delinsTTT (JAK2)	ENSP00000371067.3:p.Val617Phe
NM_004972.3:c.1849_1851delinsTTT , LRG_612t1:c.1849_1851delinsTTT (JAK2)	NP_004963.1:p.Val617Phe
XM_011517701.1:c.377-58428_377-58426delinsAAA (INSL6)	XP_011516003.1:n.377-58428_377-58426delinsAAA
XM_011517702.1:c.377-81339_377-81337delinsAAA (INSL6)	XP_011516004.1:n.377-81339_377-81337delinsAAA
XR_929169.1:n.485-58428_485-58426delinsAAA (INSL6)
NM_001322194.1:c.1849_1851delinsTTT (JAK2)	NP_001309123.1:p.Val617Phe
NM_001322195.1:c.1849_1851delinsTTT (JAK2)	NP_001309124.1:p.Val617Phe
NM_001322196.1:c.1849_1851delinsTTT (JAK2)	NP_001309125.1:p.Val617Phe
NM_001322198.1:c.634_636delinsTTT (JAK2)	NP_001309127.1:p.Val212Phe
NM_001322199.1:c.634_636delinsTTT (JAK2)	NP_001309128.1:p.Val212Phe
NM_001322204.1:c.1402_1404delinsTTT (JAK2)	NP_001309133.1:p.Val468Phe
XM_011517702.3:c.377-81339_377-81337delinsAAA (INSL6)	XP_011516004.1:n.377-81339_377-81337delinsAAA
NM_004972.4:c.1849_1851delinsTTT (JAK2) MANE Select	NP_004963.1:p.Val617Phe
NM_001322194.2:c.1849_1851delinsTTT (JAK2)	NP_001309123.1:p.Val617Phe
NM_001322195.2:c.1849_1851delinsTTT (JAK2)	NP_001309124.1:p.Val617Phe
NM_001322196.2:c.1849_1851delinsTTT (JAK2)	NP_001309125.1:p.Val617Phe
NM_001322198.2:c.634_636delinsTTT (JAK2)	NP_001309127.1:p.Val212Phe
NM_001322199.2:c.634_636delinsTTT (JAK2)	NP_001309128.1:p.Val212Phe
NM_001322204.2:c.1402_1404delinsTTT (JAK2)	NP_001309133.1:p.Val468Phe
NR_169763.1:n.2333_2335delinsTTT (JAK2)
NR_169764.1:n.2250_2252delinsTTT (JAK2)