Canonical Allele Identifier: CA2676711873

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404632-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404635del , CM000667.2:g.177404635del	GRCh38
NC_000005.9:g.176831636del , CM000667.1:g.176831636del	GRCh37
NC_000005.8:g.176764242del	NCBI36
NG_007568.1:g.9944del , LRG_145:g.9944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*332del (F12)	ENSP00000512476.1:n.*332del
ENST00000696193.1:c.*1036del (F12)	ENSP00000512477.1:n.*1036del
ENST00000696194.1:c.*256del (F12)	ENSP00000512478.1:n.*256del
ENST00000696195.1:n.3469del (F12)
ENST00000696200.1:n.769del (F12)
ENST00000696201.1:c.666del (F12)	ENSP00000512482.1:p.Leu223SerfsTer28
ENST00000253496.4:c.666del (F12) MANE Select	ENSP00000253496.3:p.Leu223SerfsTer28
ENST00000253496.3:c.666del (F12)	ENSP00000253496.3:p.Leu223SerfsTer28
ENST00000502598.5:c.-45+1109del (GRK6)	ENSP00000422873.1:n.-45+1109del
ENST00000503736.1:n.172+177del (F12)
ENST00000506296.5:c.-45+78del (GRK6)	ENSP00000421055.1:n.-45+78del
NM_000505.3:c.666del , LRG_145t1:c.666del (F12)	NP_000496.2:p.Leu223SerfsTer28
XM_011534461.1:c.666del (F12)	XP_011532763.1:p.Leu223SerfsTer28
XM_011534462.1:c.330del (F12)	XP_011532764.1:p.Leu111SerfsTer28
XM_011534462.2:c.330del (F12)	XP_011532764.1:p.Leu111SerfsTer28
XM_017009773.2:c.1417-7129del (SLC34A1)	XP_016865262.1:n.1417-7129del
NM_000505.4:c.666del (F12) MANE Select	NP_000496.2:p.Leu223SerfsTer28