Canonical Allele Identifier: CA2578497012

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404459-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404462del , CM000667.2:g.177404462del	GRCh38
NC_000005.9:g.176831463del , CM000667.1:g.176831463del	GRCh37
NC_000005.8:g.176764069del	NCBI36
NG_007568.1:g.10117del , LRG_145:g.10117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*466+39del (F12)	ENSP00000512476.1:n.*466+39del
ENST00000696193.1:c.*1170+39del (F12)	ENSP00000512477.1:n.*1170+39del
ENST00000696194.1:c.*390+39del (F12)	ENSP00000512478.1:n.*390+39del
ENST00000696195.1:n.3603+39del (F12)
ENST00000696200.1:n.903+39del (F12)
ENST00000696201.1:c.800+39del (F12)	ENSP00000512482.1:n.800+39del
ENST00000253496.4:c.800+39del (F12) MANE Select	ENSP00000253496.3:n.800+39del
ENST00000253496.3:c.800+39del (F12)	ENSP00000253496.3:n.800+39del
ENST00000502598.5:c.-45+936del (GRK6)	ENSP00000422873.1:n.-45+936del
ENST00000502854.5:n.13del (F12)
ENST00000503736.1:n.173-47del (F12)
ENST00000506296.5:c.-140del (GRK6)	ENSP00000421055.1:n.-140del
ENST00000510358.5:n.13del (F12)
NM_000505.3:c.800+39del , LRG_145t1:c.800+39del (F12)	NP_000496.2:n.800+39del
XM_011534461.1:c.800+39del (F12)	XP_011532763.1:n.800+39del
XM_011534462.1:c.464+39del (F12)	XP_011532764.1:n.464+39del
XM_011534462.2:c.464+39del (F12)	XP_011532764.1:n.464+39del
XM_017009773.2:c.1417-7302del (SLC34A1)	XP_016865262.1:n.1417-7302del
NM_000505.4:c.800+39del (F12) MANE Select	NP_000496.2:n.800+39del