Canonical Allele Identifier: CA2769563902

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403823_177403824insCGGGGTGTAT , CM000667.2:g.177403823_177403824insCGGGGTGTAT	GRCh38
NC_000005.9:g.176830824_176830825insCGGGGTGTAT , CM000667.1:g.176830824_176830825insCGGGGTGTAT	GRCh37
NC_000005.8:g.176763430_176763431insCGGGGTGTAT	NCBI36
NG_007568.1:g.10753_10754insATACACCCCG , LRG_145:g.10753_10754insATACACCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*916+35_*916+36insATACACCCCG (F12)	ENSP00000512476.1:n.*916+35_*916+36insATACACCCCG
ENST00000696193.1:c.*1637+35_*1637+36insATACACCCCG (F12)	ENSP00000512477.1:n.*1637+35_*1637+36insATACACCCCG
ENST00000696194.1:c.*840+35_*840+36insATACACCCCG (F12)	ENSP00000512478.1:n.*840+35_*840+36insATACACCCCG
ENST00000696195.1:n.4053+35_4053+36insATACACCCCG (F12)
ENST00000696200.1:n.1388_1389insATACACCCCG (F12)
ENST00000696201.1:c.1250+35_1250+36insATACACCCCG (F12)	ENSP00000512482.1:n.1250+35_1250+36insATACACCCCG
ENST00000253496.4:c.1250+35_1250+36insATACACCCCG (F12) MANE Select	ENSP00000253496.3:n.1250+35_1250+36insATACACCCCG
ENST00000253496.3:c.1250+35_1250+36insATACACCCCG (F12)	ENSP00000253496.3:n.1250+35_1250+36insATACACCCCG
ENST00000502598.5:c.-45+297_-45+298insCGGGGTGTAT (GRK6)	ENSP00000422873.1:n.-45+297_-45+298insCGGGGTGTAT
ENST00000502854.5:n.544_545insATACACCCCG (F12)
ENST00000503736.1:n.622+35_622+36insATACACCCCG (F12)
ENST00000510358.5:n.649_650insATACACCCCG (F12)
NM_000505.3:c.1250+35_1250+36insATACACCCCG , LRG_145t1:c.1250+35_1250+36insATACACCCCG (F12)	NP_000496.2:n.1250+35_1250+36insATACACCCCG
XM_011534461.1:c.1250+35_1250+36insATACACCCCG (F12)	XP_011532763.1:n.1250+35_1250+36insATACACCCCG
XM_011534462.1:c.914+35_914+36insATACACCCCG (F12)	XP_011532764.1:n.914+35_914+36insATACACCCCG
XM_011534462.2:c.914+35_914+36insATACACCCCG (F12)	XP_011532764.1:n.914+35_914+36insATACACCCCG
XM_017009773.2:c.1416+6749_1416+6750insCGGGGTGTAT (SLC34A1)	XP_016865262.1:n.1416+6749_1416+6750insCGGGGTGTAT
NM_000505.4:c.1250+35_1250+36insATACACCCCG (F12) MANE Select	NP_000496.2:n.1250+35_1250+36insATACACCCCG