Canonical Allele Identifier: CA1603608872

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404172_177404173delinsTC , CM000667.2:g.177404172_177404173delinsTC GRCh38
NC_000005.9:g.176831173_176831174delinsTC , CM000667.1:g.176831173_176831174delinsTC GRCh37
NC_000005.8:g.176763779_176763780delinsTC NCBI36
NG_007568.1:g.10404_10405delinsGA , LRG_145:g.10404_10405delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*684+23_*684+24delinsGA (F12) ENSP00000512476.1:n.*684+23_*684+24delins...
ENST00000696193.1:c.*1388+23_*1388+24delinsGA (F12) ENSP00000512477.1:n.*1388+23_*1388+24deli...
ENST00000696194.1:c.*608+23_*608+24delinsGA (F12) ENSP00000512478.1:n.*608+23_*608+24delins...
ENST00000696195.1:n.3821+23_3821+24delinsGA (F12)
ENST00000696200.1:n.1121+23_1121+24delinsGA (F12)
ENST00000696201.1:c.1018+23_1018+24delinsGA (F12) ENSP00000512482.1:n.1018+23_1018+24delins...
ENST00000253496.4:c.1018+23_1018+24delinsGA (F12) MANE Select ENSP00000253496.3:n.1018+23_1018+24delins...
ENST00000253496.3:c.1018+23_1018+24delinsGA (F12) ENSP00000253496.3:n.1018+23_1018+24delins...
ENST00000502598.5:c.-45+646_-45+647delinsTC (GRK6) ENSP00000422873.1:n.-45+646_-45+647delins...
ENST00000502854.5:n.277+23_277+24delinsGA (F12)
ENST00000503736.1:n.390+23_390+24delinsGA (F12)
ENST00000510358.5:n.300_301delinsGA (F12)
NM_000505.3:c.1018+23_1018+24delinsGA , LRG_145t1:c.1018+23_1018+24delinsGA (F12) NP_000496.2:n.1018+23_1018+24delinsGA
XM_011534461.1:c.1018+23_1018+24delinsGA (F12) XP_011532763.1:n.1018+23_1018+24delinsGA
XM_011534462.1:c.682+23_682+24delinsGA (F12) XP_011532764.1:n.682+23_682+24delinsGA
XM_011534462.2:c.682+23_682+24delinsGA (F12) XP_011532764.1:n.682+23_682+24delinsGA
XM_017009773.2:c.1416+7098_1416+7099delinsTC (SLC34A1) XP_016865262.1:n.1416+7098_1416+7099delin...
NM_000505.4:c.1018+23_1018+24delinsGA (F12) MANE Select NP_000496.2:n.1018+23_1018+24delinsGA