Canonical Allele Identifier: CA1603608813

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404103_177404104delinsAG , CM000667.2:g.177404103_177404104delinsAG GRCh38
NC_000005.9:g.176831104_176831105delinsAG , CM000667.1:g.176831104_176831105delinsAG GRCh37
NC_000005.8:g.176763710_176763711delinsAG NCBI36
NG_007568.1:g.10473_10474delinsCT , LRG_145:g.10473_10474delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*685-14_*685-13delinsCT (F12) ENSP00000512476.1:n.*685-14_*685-13delinsCT
ENST00000696193.1:c.*1392_*1393delinsCT (F12) ENSP00000512477.1:n.*1392_*1393delinsCT
ENST00000696194.1:c.*609-14_*609-13delinsCT (F12) ENSP00000512478.1:n.*609-14_*609-13delinsCT
ENST00000696195.1:n.3822-14_3822-13delinsCT (F12)
ENST00000696200.1:n.1122-14_1122-13delinsCT (F12)
ENST00000696201.1:c.1019-14_1019-13delinsCT (F12) ENSP00000512482.1:n.1019-14_1019-13delinsCT
ENST00000253496.4:c.1019-14_1019-13delinsCT (F12) MANE Select ENSP00000253496.3:n.1019-14_1019-13delinsCT
ENST00000253496.3:c.1019-14_1019-13delinsCT (F12) ENSP00000253496.3:n.1019-14_1019-13delinsCT
ENST00000502598.5:c.-45+577_-45+578delinsAG (GRK6) ENSP00000422873.1:n.-45+577_-45+578delinsAG
ENST00000502854.5:n.278-14_278-13delinsCT (F12)
ENST00000503736.1:n.391-14_391-13delinsCT (F12)
ENST00000510358.5:n.369_370delinsCT (F12)
NM_000505.3:c.1019-14_1019-13delinsCT , LRG_145t1:c.1019-14_1019-13delinsCT (F12) NP_000496.2:n.1019-14_1019-13delinsCT
XM_011534461.1:c.1019-14_1019-13delinsCT (F12) XP_011532763.1:n.1019-14_1019-13delinsCT
XM_011534462.1:c.683-14_683-13delinsCT (F12) XP_011532764.1:n.683-14_683-13delinsCT
XM_011534462.2:c.683-14_683-13delinsCT (F12) XP_011532764.1:n.683-14_683-13delinsCT
XM_017009773.2:c.1416+7029_1416+7030delinsAG (SLC34A1) XP_016865262.1:n.1416+7029_1416+7030delinsAG
NM_000505.4:c.1019-14_1019-13delinsCT (F12) MANE Select NP_000496.2:n.1019-14_1019-13delinsCT