Canonical Allele Identifier: CA2695205760

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404351_177404359del , CM000667.2:g.177404351_177404359del	GRCh38
NC_000005.9:g.176831352_176831360del , CM000667.1:g.176831352_176831360del	GRCh37
NC_000005.8:g.176763958_176763966del	NCBI36
NG_007568.1:g.10219_10227del , LRG_145:g.10219_10227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*522_*530del (F12)	ENSP00000512476.1:n.*522_*530del
ENST00000696193.1:c.*1226_*1234del (F12)	ENSP00000512477.1:n.*1226_*1234del
ENST00000696194.1:c.*446_*454del (F12)	ENSP00000512478.1:n.*446_*454del
ENST00000696195.1:n.3659_3667del (F12)
ENST00000696200.1:n.959_967del (F12)
ENST00000696201.1:c.856_864del (F12)	ENSP00000512482.1:p.Ser286_Glu288del
ENST00000253496.4:c.856_864del (F12) MANE Select	ENSP00000253496.3:p.Ser286_Glu288del
ENST00000253496.3:c.856_864del (F12)	ENSP00000253496.3:p.Ser286_Glu288del
ENST00000502598.5:c.-45+825_-45+833del (GRK6)	ENSP00000422873.1:n.-45+825_-45+833del
ENST00000502854.5:n.115_123del (F12)
ENST00000503736.1:n.228_236del (F12)
ENST00000510358.5:n.115_123del (F12)
NM_000505.3:c.856_864del , LRG_145t1:c.856_864del (F12)	NP_000496.2:p.Ser286_Glu288del
XM_011534461.1:c.856_864del (F12)	XP_011532763.1:p.Ser286_Glu288del
XM_011534462.1:c.520_528del (F12)	XP_011532764.1:p.Ser174_Glu176del
XM_011534462.2:c.520_528del (F12)	XP_011532764.1:p.Ser174_Glu176del
XM_017009773.2:c.1416+7277_1416+7285del (SLC34A1)	XP_016865262.1:n.1416+7277_1416+7285del
NM_000505.4:c.856_864del (F12) MANE Select	NP_000496.2:p.Ser286_Glu288del