Canonical Allele Identifier: CA1603608875

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404174_177404175delinsCT , CM000667.2:g.177404174_177404175delinsCT GRCh38
NC_000005.9:g.176831175_176831176delinsCT , CM000667.1:g.176831175_176831176delinsCT GRCh37
NC_000005.8:g.176763781_176763782delinsCT NCBI36
NG_007568.1:g.10402_10403delinsAG , LRG_145:g.10402_10403delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*684+21_*684+22delinsAG (F12) ENSP00000512476.1:n.*684+21_*684+22delins...
ENST00000696193.1:c.*1388+21_*1388+22delinsAG (F12) ENSP00000512477.1:n.*1388+21_*1388+22deli...
ENST00000696194.1:c.*608+21_*608+22delinsAG (F12) ENSP00000512478.1:n.*608+21_*608+22delins...
ENST00000696195.1:n.3821+21_3821+22delinsAG (F12)
ENST00000696200.1:n.1121+21_1121+22delinsAG (F12)
ENST00000696201.1:c.1018+21_1018+22delinsAG (F12) ENSP00000512482.1:n.1018+21_1018+22delins...
ENST00000253496.4:c.1018+21_1018+22delinsAG (F12) MANE Select ENSP00000253496.3:n.1018+21_1018+22delins...
ENST00000253496.3:c.1018+21_1018+22delinsAG (F12) ENSP00000253496.3:n.1018+21_1018+22delins...
ENST00000502598.5:c.-45+648_-45+649delinsCT (GRK6) ENSP00000422873.1:n.-45+648_-45+649delins...
ENST00000502854.5:n.277+21_277+22delinsAG (F12)
ENST00000503736.1:n.390+21_390+22delinsAG (F12)
ENST00000510358.5:n.298_299delinsAG (F12)
NM_000505.3:c.1018+21_1018+22delinsAG , LRG_145t1:c.1018+21_1018+22delinsAG (F12) NP_000496.2:n.1018+21_1018+22delinsAG
XM_011534461.1:c.1018+21_1018+22delinsAG (F12) XP_011532763.1:n.1018+21_1018+22delinsAG
XM_011534462.1:c.682+21_682+22delinsAG (F12) XP_011532764.1:n.682+21_682+22delinsAG
XM_011534462.2:c.682+21_682+22delinsAG (F12) XP_011532764.1:n.682+21_682+22delinsAG
XM_017009773.2:c.1416+7100_1416+7101delinsCT (SLC34A1) XP_016865262.1:n.1416+7100_1416+7101delin...
NM_000505.4:c.1018+21_1018+22delinsAG (F12) MANE Select NP_000496.2:n.1018+21_1018+22delinsAG