Canonical Allele Identifier: CA2676715146

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177403896-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403901del , CM000667.2:g.177403901del	GRCh38
NC_000005.9:g.176830902del , CM000667.1:g.176830902del	GRCh37
NC_000005.8:g.176763508del	NCBI36
NG_007568.1:g.10680del , LRG_145:g.10680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*878del (F12)	ENSP00000512476.1:n.*878del
ENST00000696193.1:c.*1599del (F12)	ENSP00000512477.1:n.*1599del
ENST00000696194.1:c.*802del (F12)	ENSP00000512478.1:n.*802del
ENST00000696195.1:n.4015del (F12)
ENST00000696200.1:n.1315del (F12)
ENST00000696201.1:c.1212del (F12)	ENSP00000512482.1:p.Cys405AlafsTer4
ENST00000253496.4:c.1212del (F12) MANE Select	ENSP00000253496.3:p.Cys405AlafsTer4
ENST00000253496.3:c.1212del (F12)	ENSP00000253496.3:p.Cys405AlafsTer4
ENST00000502598.5:c.-45+375del (GRK6)	ENSP00000422873.1:n.-45+375del
ENST00000502854.5:n.471del (F12)
ENST00000503736.1:n.584del (F12)
ENST00000510358.5:n.576del (F12)
NM_000505.3:c.1212del , LRG_145t1:c.1212del (F12)	NP_000496.2:p.Cys405AlafsTer4
XM_011534461.1:c.1212del (F12)	XP_011532763.1:p.Cys405AlafsTer4
XM_011534462.1:c.876del (F12)	XP_011532764.1:p.Cys293AlafsTer4
XM_011534462.2:c.876del (F12)	XP_011532764.1:p.Cys293AlafsTer4
XM_017009773.2:c.1416+6827del (SLC34A1)	XP_016865262.1:n.1416+6827del
NM_000505.4:c.1212del (F12) MANE Select	NP_000496.2:p.Cys405AlafsTer4