Canonical Allele Identifier: CA1603608543

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403829_177403848delinsTGGGGCGGCTCTGGGCGGGC , CM000667.2:g.177403829_177403848delinsTGGGGCGGCTCTGGGCGGGC	GRCh38
NC_000005.9:g.176830830_176830849delinsTGGGGCGGCTCTGGGCGGGC , CM000667.1:g.176830830_176830849delinsTGGGGCGGCTCTGGGCGGGC	GRCh37
NC_000005.8:g.176763436_176763455delinsTGGGGCGGCTCTGGGCGGGC	NCBI36
NG_007568.1:g.10729_10748delinsGCCCGCCCAGAGCCGCCCCA , LRG_145:g.10729_10748delinsGCCCGCCCAGAGCCGCCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*916+11_*916+30delinsGCCCGCCCAGAGCCGCCCCA (F12)	ENSP00000512476.1:n.*916+11_*916+30delinsGCCCGCCCAGAGCCGCCCCA...
ENST00000696193.1:c.*1637+11_*1637+30delinsGCCCGCCCAGAGCCGCCCCA (F12)	ENSP00000512477.1:n.*1637+11_*1637+30delinsGCCCGCCCAGAGCCGCCC...
ENST00000696194.1:c.*840+11_*840+30delinsGCCCGCCCAGAGCCGCCCCA (F12)	ENSP00000512478.1:n.*840+11_*840+30delinsGCCCGCCCAGAGCCGCCCCA...
ENST00000696195.1:n.4053+11_4053+30delinsGCCCGCCCAGAGCCGCCCCA (F12)
ENST00000696200.1:n.1364_1383delinsGCCCGCCCAGAGCCGCCCCA (F12)
ENST00000696201.1:c.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA (F12)	ENSP00000512482.1:n.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA...
ENST00000253496.4:c.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA (F12) MANE Select	ENSP00000253496.3:n.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA...
ENST00000253496.3:c.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA (F12)	ENSP00000253496.3:n.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA...
ENST00000502598.5:c.-45+303_-45+322delinsTGGGGCGGCTCTGGGCGGGC (GRK6)	ENSP00000422873.1:n.-45+303_-45+322delinsTGGGGCGGCTCTGGGCGGGC...
ENST00000502854.5:n.520_539delinsGCCCGCCCAGAGCCGCCCCA (F12)
ENST00000503736.1:n.622+11_622+30delinsGCCCGCCCAGAGCCGCCCCA (F12)
ENST00000510358.5:n.625_644delinsGCCCGCCCAGAGCCGCCCCA (F12)
NM_000505.3:c.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA , LRG_145t1:c.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA (F12)	NP_000496.2:n.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA
XM_011534461.1:c.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA (F12)	XP_011532763.1:n.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA
XM_011534462.1:c.914+11_914+30delinsGCCCGCCCAGAGCCGCCCCA (F12)	XP_011532764.1:n.914+11_914+30delinsGCCCGCCCAGAGCCGCCCCA
XM_011534462.2:c.914+11_914+30delinsGCCCGCCCAGAGCCGCCCCA (F12)	XP_011532764.1:n.914+11_914+30delinsGCCCGCCCAGAGCCGCCCCA
XM_017009773.2:c.1416+6755_1416+6774delinsTGGGGCGGCTCTGGGCGGGC (SLC34A1)	XP_016865262.1:n.1416+6755_1416+6774delinsTGGGGCGGCTCTGGGCGGG...
NM_000505.4:c.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA (F12) MANE Select	NP_000496.2:n.1250+11_1250+30delinsGCCCGCCCAGAGCCGCCCCA