Canonical Allele Identifier: CA1603608877

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404176_177404178delinsTCC , CM000667.2:g.177404176_177404178delinsTCC	GRCh38
NC_000005.9:g.176831177_176831179delinsTCC , CM000667.1:g.176831177_176831179delinsTCC	GRCh37
NC_000005.8:g.176763783_176763785delinsTCC	NCBI36
NG_007568.1:g.10399_10401delinsGGA , LRG_145:g.10399_10401delinsGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*684+18_*684+20delinsGGA (F12)	ENSP00000512476.1:n.*684+18_*684+20delins...
ENST00000696193.1:c.*1388+18_*1388+20delinsGGA (F12)	ENSP00000512477.1:n.*1388+18_*1388+20deli...
ENST00000696194.1:c.*608+18_*608+20delinsGGA (F12)	ENSP00000512478.1:n.*608+18_*608+20delins...
ENST00000696195.1:n.3821+18_3821+20delinsGGA (F12)
ENST00000696200.1:n.1121+18_1121+20delinsGGA (F12)
ENST00000696201.1:c.1018+18_1018+20delinsGGA (F12)	ENSP00000512482.1:n.1018+18_1018+20delins...
ENST00000253496.4:c.1018+18_1018+20delinsGGA (F12) MANE Select	ENSP00000253496.3:n.1018+18_1018+20delins...
ENST00000253496.3:c.1018+18_1018+20delinsGGA (F12)	ENSP00000253496.3:n.1018+18_1018+20delins...
ENST00000502598.5:c.-45+650_-45+652delinsTCC (GRK6)	ENSP00000422873.1:n.-45+650_-45+652delins...
ENST00000502854.5:n.277+18_277+20delinsGGA (F12)
ENST00000503736.1:n.390+18_390+20delinsGGA (F12)
ENST00000510358.5:n.295_297delinsGGA (F12)
NM_000505.3:c.1018+18_1018+20delinsGGA , LRG_145t1:c.1018+18_1018+20delinsGGA (F12)	NP_000496.2:n.1018+18_1018+20delinsGGA
XM_011534461.1:c.1018+18_1018+20delinsGGA (F12)	XP_011532763.1:n.1018+18_1018+20delinsGGA...
XM_011534462.1:c.682+18_682+20delinsGGA (F12)	XP_011532764.1:n.682+18_682+20delinsGGA
XM_011534462.2:c.682+18_682+20delinsGGA (F12)	XP_011532764.1:n.682+18_682+20delinsGGA
XM_017009773.2:c.1416+7102_1416+7104delinsTCC (SLC34A1)	XP_016865262.1:n.1416+7102_1416+7104delin...
NM_000505.4:c.1018+18_1018+20delinsGGA (F12) MANE Select	NP_000496.2:n.1018+18_1018+20delinsGGA