Canonical Allele Identifier: CA1120763063

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5081792_5081793insACG , CM000671.2:g.5081792_5081793insACG GRCh38
NC_000009.11:g.5081792_5081793insACG , CM000671.1:g.5081792_5081793insACG GRCh37
NC_000009.10:g.5071792_5071793insACG NCBI36
NG_009904.1:g.101548_101549insACG , LRG_612:g.101548_101549insACG
NG_046969.1:g.108918_108919insCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000381652.4:c.2502_2503insACG (JAK2) MANE Select ENSP00000371067.4:p.Gly834_Ala835insThr
ENST00000381652.3:c.2502_2503insACG (JAK2) ENSP00000371067.3:p.Gly834_Ala835insThr
NM_004972.3:c.2502_2503insACG , LRG_612t1:c.2502_2503insACG (JAK2) NP_004963.1:p.Gly834_Ala835insThr
XM_011517701.1:c.377-66449_377-66448insCGT (INSL6) XP_011516003.1:n.377-66449_377-66448insCGT
XM_011517702.1:c.376+82386_376+82387insCGT (INSL6) XP_011516004.1:n.376+82386_376+82387insCGT
XR_929169.1:n.485-66449_485-66448insCGT (INSL6)
NM_001322194.1:c.2502_2503insACG (JAK2) NP_001309123.1:p.Gly834_Ala835insThr
NM_001322195.1:c.2502_2503insACG (JAK2) NP_001309124.1:p.Gly834_Ala835insThr
NM_001322196.1:c.2502_2503insACG (JAK2) NP_001309125.1:p.Gly834_Ala835insThr
NM_001322198.1:c.1287_1288insACG (JAK2) NP_001309127.1:p.Gly429_Ala430insThr
NM_001322199.1:c.1287_1288insACG (JAK2) NP_001309128.1:p.Gly429_Ala430insThr
NM_001322204.1:c.2055_2056insACG (JAK2) NP_001309133.1:p.Gly685_Ala686insThr
XM_011517702.3:c.376+82386_376+82387insCGT (INSL6) XP_011516004.1:n.376+82386_376+82387insCGT
NM_004972.4:c.2502_2503insACG (JAK2) MANE Select NP_004963.1:p.Gly834_Ala835insThr
NM_001322194.2:c.2502_2503insACG (JAK2) NP_001309123.1:p.Gly834_Ala835insThr
NM_001322195.2:c.2502_2503insACG (JAK2) NP_001309124.1:p.Gly834_Ala835insThr
NM_001322196.2:c.2502_2503insACG (JAK2) NP_001309125.1:p.Gly834_Ala835insThr
NM_001322198.2:c.1287_1288insACG (JAK2) NP_001309127.1:p.Gly429_Ala430insThr
NM_001322199.2:c.1287_1288insACG (JAK2) NP_001309128.1:p.Gly429_Ala430insThr
NM_001322204.2:c.2055_2056insACG (JAK2) NP_001309133.1:p.Gly685_Ala686insThr
NR_169763.1:n.2986_2987insACG (JAK2)
NR_169764.1:n.2903_2904insACG (JAK2)