Canonical Allele Identifier: CA1829649968

Linked Data

dbSNP Id: rs1818920135

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5071019_5071023dup , CM000671.2:g.5071019_5071023dup GRCh38
NC_000009.11:g.5071019_5071023dup , CM000671.1:g.5071019_5071023dup GRCh37
NC_000009.10:g.5061019_5061023dup NCBI36
NG_009904.1:g.90775_90779dup , LRG_612:g.90775_90779dup
NG_046969.1:g.119690_119694dup

Transcript Alleles

HGVS Amino-acid change
ENST00000381652.4:c.1641+967_1641+971dup (JAK2) MANE Select ENSP00000371067.4:n.1641+967_1641+971dup
ENST00000636127.1:c.1641+967_1641+971dup (JAK2) ENSP00000489812.1:n.1641+967_1641+971dup
ENST00000381652.3:c.1641+967_1641+971dup (JAK2) ENSP00000371067.3:n.1641+967_1641+971dup
NM_004972.3:c.1641+967_1641+971dup , LRG_612t1:c.1641+967_1641+971dup (JAK2) NP_004963.1:n.1641+967_1641+971dup
XM_011517701.1:c.377-55677_377-55673dup (INSL6) XP_011516003.1:n.377-55677_377-55673dup
XM_011517702.1:c.377-78588_377-78584dup (INSL6) XP_011516004.1:n.377-78588_377-78584dup
XR_929169.1:n.485-55677_485-55673dup (INSL6)
NM_001322194.1:c.1641+967_1641+971dup (JAK2) NP_001309123.1:n.1641+967_1641+971dup
NM_001322195.1:c.1641+967_1641+971dup (JAK2) NP_001309124.1:n.1641+967_1641+971dup
NM_001322196.1:c.1641+967_1641+971dup (JAK2) NP_001309125.1:n.1641+967_1641+971dup
NM_001322198.1:c.426+967_426+971dup (JAK2) NP_001309127.1:n.426+967_426+971dup
NM_001322199.1:c.426+967_426+971dup (JAK2) NP_001309128.1:n.426+967_426+971dup
NM_001322204.1:c.1194+967_1194+971dup (JAK2) NP_001309133.1:n.1194+967_1194+971dup
XM_011517702.3:c.377-78588_377-78584dup (INSL6) XP_011516004.1:n.377-78588_377-78584dup
NM_004972.4:c.1641+967_1641+971dup (JAK2) MANE Select NP_004963.1:n.1641+967_1641+971dup
NM_001322194.2:c.1641+967_1641+971dup (JAK2) NP_001309123.1:n.1641+967_1641+971dup
NM_001322195.2:c.1641+967_1641+971dup (JAK2) NP_001309124.1:n.1641+967_1641+971dup
NM_001322196.2:c.1641+967_1641+971dup (JAK2) NP_001309125.1:n.1641+967_1641+971dup
NM_001322198.2:c.426+967_426+971dup (JAK2) NP_001309127.1:n.426+967_426+971dup
NM_001322199.2:c.426+967_426+971dup (JAK2) NP_001309128.1:n.426+967_426+971dup
NM_001322204.2:c.1194+967_1194+971dup (JAK2) NP_001309133.1:n.1194+967_1194+971dup
NR_169763.1:n.2125+967_2125+971dup (JAK2)
NR_169764.1:n.2042+967_2042+971dup (JAK2)