Canonical Allele Identifier: CA1084818797

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404130_177404131insATCATAGCAGCTTGCCTTGGT , CM000667.2:g.177404130_177404131insATCATAGCAGCTTGCCTTGGT GRCh38
NC_000005.9:g.176831131_176831132insATCATAGCAGCTTGCCTTGGT , CM000667.1:g.176831131_176831132insATCATAGCAGCTTGCCTTGGT GRCh37
NC_000005.8:g.176763737_176763738insATCATAGCAGCTTGCCTTGGT NCBI36
NG_007568.1:g.10446_10447insACCAAGGCAAGCTGCTATGAT , LRG_145:g.10446_10447insACCAAGGCAAGCTGCTATGAT

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*685-41_*685-40insACCAAGGCAAGCTGCTATGAT (F12) ENSP00000512476.1:n.*685-41_*685-40insACCAAGGCAAGCTGCTATGAT
ENST00000696193.1:c.*1389-24_*1389-23insACCAAGGCAAGCTGCTATGAT (F12) ENSP00000512477.1:n.*1389-24_*1389-23insACCAAGGCAAGCTGCTATGAT...
ENST00000696194.1:c.*609-41_*609-40insACCAAGGCAAGCTGCTATGAT (F12) ENSP00000512478.1:n.*609-41_*609-40insACCAAGGCAAGCTGCTATGAT
ENST00000696195.1:n.3822-41_3822-40insACCAAGGCAAGCTGCTATGAT (F12)
ENST00000696200.1:n.1122-41_1122-40insACCAAGGCAAGCTGCTATGAT (F12)
ENST00000696201.1:c.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT (F12) ENSP00000512482.1:n.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT
ENST00000253496.4:c.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT (F12) MANE Select ENSP00000253496.3:n.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT
ENST00000253496.3:c.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT (F12) ENSP00000253496.3:n.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT
ENST00000502598.5:c.-45+604_-45+605insATCATAGCAGCTTGCCTTGGT (GRK6) ENSP00000422873.1:n.-45+604_-45+605insATCATAGCAGCTTGCCTTGGT
ENST00000502854.5:n.278-41_278-40insACCAAGGCAAGCTGCTATGAT (F12)
ENST00000503736.1:n.391-41_391-40insACCAAGGCAAGCTGCTATGAT (F12)
ENST00000510358.5:n.342_343insACCAAGGCAAGCTGCTATGAT (F12)
NM_000505.3:c.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT , LRG_145t1:c.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT (F12) NP_000496.2:n.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT
XM_011534461.1:c.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT (F12) XP_011532763.1:n.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT
XM_011534462.1:c.683-41_683-40insACCAAGGCAAGCTGCTATGAT (F12) XP_011532764.1:n.683-41_683-40insACCAAGGCAAGCTGCTATGAT
XM_011534462.2:c.683-41_683-40insACCAAGGCAAGCTGCTATGAT (F12) XP_011532764.1:n.683-41_683-40insACCAAGGCAAGCTGCTATGAT
XM_017009773.2:c.1416+7056_1416+7057insATCATAGCAGCTTGCCTTGGT (SLC34A1) XP_016865262.1:n.1416+7056_1416+7057insATCATAGCAGCTTGCCTTGGT
NM_000505.4:c.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT (F12) MANE Select NP_000496.2:n.1019-41_1019-40insACCAAGGCAAGCTGCTATGAT