Canonical Allele Identifier: CA1084818828

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404139_177404140insTATCATTAAAAAA , CM000667.2:g.177404139_177404140insTATCATTAAAAAA GRCh38
NC_000005.9:g.176831140_176831141insTATCATTAAAAAA , CM000667.1:g.176831140_176831141insTATCATTAAAAAA GRCh37
NC_000005.8:g.176763746_176763747insTATCATTAAAAAA NCBI36
NG_007568.1:g.10437_10438insTTTTTTAATGATA , LRG_145:g.10437_10438insTTTTTTAATGATA

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*685-50_*685-49insTTTTTTAATGATA (F12) ENSP00000512476.1:n.*685-50_*685-49insTTT...
ENST00000696193.1:c.*1389-33_*1389-32insTTTTTTAATGATA (F12) ENSP00000512477.1:n.*1389-33_*1389-32insT...
ENST00000696194.1:c.*609-50_*609-49insTTTTTTAATGATA (F12) ENSP00000512478.1:n.*609-50_*609-49insTTT...
ENST00000696195.1:n.3822-50_3822-49insTTTTTTAATGATA (F12)
ENST00000696200.1:n.1122-50_1122-49insTTTTTTAATGATA (F12)
ENST00000696201.1:c.1019-50_1019-49insTTTTTTAATGATA (F12) ENSP00000512482.1:n.1019-50_1019-49insTTT...
ENST00000253496.4:c.1019-50_1019-49insTTTTTTAATGATA (F12) MANE Select ENSP00000253496.3:n.1019-50_1019-49insTTT...
ENST00000253496.3:c.1019-50_1019-49insTTTTTTAATGATA (F12) ENSP00000253496.3:n.1019-50_1019-49insTTT...
ENST00000502598.5:c.-45+613_-45+614insTATCATTAAAAAA (GRK6) ENSP00000422873.1:n.-45+613_-45+614insTAT...
ENST00000502854.5:n.278-50_278-49insTTTTTTAATGATA (F12)
ENST00000503736.1:n.391-50_391-49insTTTTTTAATGATA (F12)
ENST00000510358.5:n.333_334insTTTTTTAATGATA (F12)
NM_000505.3:c.1019-50_1019-49insTTTTTTAATGATA , LRG_145t1:c.1019-50_1019-49insTTTTTTAATGATA (F12) NP_000496.2:n.1019-50_1019-49insTTTTTTAAT...
XM_011534461.1:c.1019-50_1019-49insTTTTTTAATGATA (F12) XP_011532763.1:n.1019-50_1019-49insTTTTTT...
XM_011534462.1:c.683-50_683-49insTTTTTTAATGATA (F12) XP_011532764.1:n.683-50_683-49insTTTTTTAA...
XM_011534462.2:c.683-50_683-49insTTTTTTAATGATA (F12) XP_011532764.1:n.683-50_683-49insTTTTTTAA...
XM_017009773.2:c.1416+7065_1416+7066insTATCATTAAAAAA (SLC34A1) XP_016865262.1:n.1416+7065_1416+7066insTA...
NM_000505.4:c.1019-50_1019-49insTTTTTTAATGATA (F12) MANE Select NP_000496.2:n.1019-50_1019-49insTTTTTTAAT...