Canonical Allele Identifier: CA1603609165

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404294_177404295delinsAC , CM000667.2:g.177404294_177404295delinsAC GRCh38
NC_000005.9:g.176831295_176831296delinsAC , CM000667.1:g.176831295_176831296delinsAC GRCh37
NC_000005.8:g.176763901_176763902delinsAC NCBI36
NG_007568.1:g.10282_10283delinsGT , LRG_145:g.10282_10283delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*585_*586delinsGT (F12) ENSP00000512476.1:n.*585_*586delinsGT
ENST00000696193.1:c.*1289_*1290delinsGT (F12) ENSP00000512477.1:n.*1289_*1290delinsGT
ENST00000696194.1:c.*509_*510delinsGT (F12) ENSP00000512478.1:n.*509_*510delinsGT
ENST00000696195.1:n.3722_3723delinsGT (F12)
ENST00000696200.1:n.1022_1023delinsGT (F12)
ENST00000696201.1:c.919_920delinsGT (F12) ENSP00000512482.1:p.Val307=
ENST00000253496.4:c.919_920delinsGT (F12) MANE Select ENSP00000253496.3:p.Val307=
ENST00000253496.3:c.919_920delinsGT (F12) ENSP00000253496.3:p.Val307=
ENST00000502598.5:c.-45+768_-45+769delinsAC (GRK6) ENSP00000422873.1:n.-45+768_-45+769delinsAC
ENST00000502854.5:n.178_179delinsGT (F12)
ENST00000503736.1:n.291_292delinsGT (F12)
ENST00000510358.5:n.178_179delinsGT (F12)
NM_000505.3:c.919_920delinsGT , LRG_145t1:c.919_920delinsGT (F12) NP_000496.2:p.Val307=
XM_011534461.1:c.919_920delinsGT (F12) XP_011532763.1:p.Val307=
XM_011534462.1:c.583_584delinsGT (F12) XP_011532764.1:p.Val195=
XM_011534462.2:c.583_584delinsGT (F12) XP_011532764.1:p.Val195=
XM_017009773.2:c.1416+7220_1416+7221delinsAC (SLC34A1) XP_016865262.1:n.1416+7220_1416+7221delinsAC
NM_000505.4:c.919_920delinsGT (F12) MANE Select NP_000496.2:p.Val307=