Canonical Allele Identifier: CA2676711463

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404246-GGCGGTGCCGGCTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404251_177404264del , CM000667.2:g.177404251_177404264del	GRCh38
NC_000005.9:g.176831252_176831265del , CM000667.1:g.176831252_176831265del	GRCh37
NC_000005.8:g.176763858_176763871del	NCBI36
NG_007568.1:g.10317_10330del , LRG_145:g.10317_10330del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*620_*633del (F12)	ENSP00000512476.1:n.*620_*633del
ENST00000696193.1:c.*1324_*1337del (F12)	ENSP00000512477.1:n.*1324_*1337del
ENST00000696194.1:c.*544_*557del (F12)	ENSP00000512478.1:n.*544_*557del
ENST00000696195.1:n.3757_3770del (F12)
ENST00000696200.1:n.1057_1070del (F12)
ENST00000696201.1:c.954_967del (F12)	ENSP00000512482.1:p.Gln319GlufsTer?
ENST00000253496.4:c.954_967del (F12) MANE Select	ENSP00000253496.3:p.Gln319GlufsTer?
ENST00000253496.3:c.954_967del (F12)	ENSP00000253496.3:p.Gln319GlufsTer?
ENST00000502598.5:c.-45+725_-45+738del (GRK6)	ENSP00000422873.1:n.-45+725_-45+738del
ENST00000502854.5:n.213_226del (F12)
ENST00000503736.1:n.326_339del (F12)
ENST00000510358.5:n.213_226del (F12)
NM_000505.3:c.954_967del , LRG_145t1:c.954_967del (F12)	NP_000496.2:p.Gln319GlufsTer?
XM_011534461.1:c.954_967del (F12)	XP_011532763.1:p.Gln319GlufsTer?
XM_011534462.1:c.618_631del (F12)	XP_011532764.1:p.Gln207GlufsTer?
XM_011534462.2:c.618_631del (F12)	XP_011532764.1:p.Gln207GlufsTer?
XM_017009773.2:c.1416+7177_1416+7190del (SLC34A1)	XP_016865262.1:n.1416+7177_1416+7190del
NM_000505.4:c.954_967del (F12) MANE Select	NP_000496.2:p.Gln319GlufsTer?