Canonical Allele Identifier: CA3581329

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs762403783
• ExAC: 5:176831218 G / GC
• MyVariant Identifiers: chr5:g.176831218_176831219insC (hg19) ; chr5:g.177404217_177404218insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404218dup , CM000667.2:g.177404218dup	GRCh38
NC_000005.9:g.176831219dup , CM000667.1:g.176831219dup	GRCh37
NC_000005.8:g.176763825dup	NCBI36
NG_007568.1:g.10359dup , LRG_145:g.10359dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*662dup (F12)	ENSP00000512476.1:n.*662dup
ENST00000696193.1:c.*1366dup (F12)	ENSP00000512477.1:n.*1366dup
ENST00000696194.1:c.*586dup (F12)	ENSP00000512478.1:n.*586dup
ENST00000696195.1:n.3799dup (F12)
ENST00000696200.1:n.1099dup (F12)
ENST00000696201.1:c.996dup (F12)	ENSP00000512482.1:p.Pro333AlafsTer?
ENST00000253496.4:c.996dup (F12) MANE Select	ENSP00000253496.3:p.Pro333AlafsTer?
ENST00000253496.3:c.996dup (F12)	ENSP00000253496.3:p.Pro333AlafsTer?
ENST00000502598.5:c.-45+692dup (GRK6)	ENSP00000422873.1:n.-45+692dup
ENST00000502854.5:n.255dup (F12)
ENST00000503736.1:n.368dup (F12)
ENST00000510358.5:n.255dup (F12)
NM_000505.3:c.996dup , LRG_145t1:c.996dup (F12)	NP_000496.2:p.Pro333AlafsTer?
XM_011534461.1:c.996dup (F12)	XP_011532763.1:p.Pro333AlafsTer?
XM_011534462.1:c.660dup (F12)	XP_011532764.1:p.Pro221AlafsTer?
XM_011534462.2:c.660dup (F12)	XP_011532764.1:p.Pro221AlafsTer?
XM_017009773.2:c.1416+7144dup (SLC34A1)	XP_016865262.1:n.1416+7144dup
NM_000505.4:c.996dup (F12) MANE Select	NP_000496.2:p.Pro333AlafsTer?