Canonical Allele Identifier: CA1603609852

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404675_177404676delinsAG , CM000667.2:g.177404675_177404676delinsAG GRCh38
NC_000005.9:g.176831676_176831677delinsAG , CM000667.1:g.176831676_176831677delinsAG GRCh37
NC_000005.8:g.176764282_176764283delinsAG NCBI36
NG_007568.1:g.9901_9902delinsCT , LRG_145:g.9901_9902delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*301-12_*301-11delinsCT (F12) ENSP00000512476.1:n.*301-12_*301-11delinsCT
ENST00000696193.1:c.*993_*994delinsCT (F12) ENSP00000512477.1:n.*993_*994delinsCT
ENST00000696194.1:c.*225-12_*225-11delinsCT (F12) ENSP00000512478.1:n.*225-12_*225-11delinsCT
ENST00000696195.1:n.3426_3427delinsCT (F12)
ENST00000696200.1:n.738-12_738-11delinsCT (F12)
ENST00000696201.1:c.635-12_635-11delinsCT (F12) ENSP00000512482.1:n.635-12_635-11delinsCT
ENST00000253496.4:c.635-12_635-11delinsCT (F12) MANE Select ENSP00000253496.3:n.635-12_635-11delinsCT
ENST00000253496.3:c.635-12_635-11delinsCT (F12) ENSP00000253496.3:n.635-12_635-11delinsCT
ENST00000502598.5:c.-45+1149_-45+1150delinsAG (GRK6) ENSP00000422873.1:n.-45+1149_-45+1150delinsAG
ENST00000503736.1:n.172+134_172+135delinsCT (F12)
ENST00000506296.5:c.-45+118_-45+119delinsAG (GRK6) ENSP00000421055.1:n.-45+118_-45+119delinsAG
NM_000505.3:c.635-12_635-11delinsCT , LRG_145t1:c.635-12_635-11delinsCT (F12) NP_000496.2:n.635-12_635-11delinsCT
XM_011534461.1:c.635-12_635-11delinsCT (F12) XP_011532763.1:n.635-12_635-11delinsCT
XM_011534462.1:c.299-12_299-11delinsCT (F12) XP_011532764.1:n.299-12_299-11delinsCT
XM_011534462.2:c.299-12_299-11delinsCT (F12) XP_011532764.1:n.299-12_299-11delinsCT
XM_017009773.2:c.1417-7089_1417-7088delinsAG (SLC34A1) XP_016865262.1:n.1417-7089_1417-7088delinsAG
NM_000505.4:c.635-12_635-11delinsCT (F12) MANE Select NP_000496.2:n.635-12_635-11delinsCT