Canonical Allele Identifier: CA1603609808

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1763239682

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404645dup , CM000667.2:g.177404645dup	GRCh38
NC_000005.9:g.176831646dup , CM000667.1:g.176831646dup	GRCh37
NC_000005.8:g.176764252dup	NCBI36
NG_007568.1:g.9932dup , LRG_145:g.9932dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*320dup (F12)	ENSP00000512476.1:n.*320dup
ENST00000696193.1:c.*1024dup (F12)	ENSP00000512477.1:n.*1024dup
ENST00000696194.1:c.*244dup (F12)	ENSP00000512478.1:n.*244dup
ENST00000696195.1:n.3457dup (F12)
ENST00000696200.1:n.757dup (F12)
ENST00000696201.1:c.654dup (F12)	ENSP00000512482.1:p.Asp219Ter
ENST00000253496.4:c.654dup (F12) MANE Select	ENSP00000253496.3:p.Asp219Ter
ENST00000253496.3:c.654dup (F12)	ENSP00000253496.3:p.Asp219Ter
ENST00000502598.5:c.-45+1119dup (GRK6)	ENSP00000422873.1:n.-45+1119dup
ENST00000503736.1:n.172+165dup (F12)
ENST00000506296.5:c.-45+88dup (GRK6)	ENSP00000421055.1:n.-45+88dup
NM_000505.3:c.654dup , LRG_145t1:c.654dup (F12)	NP_000496.2:p.Asp219Ter
XM_011534461.1:c.654dup (F12)	XP_011532763.1:p.Asp219Ter
XM_011534462.1:c.318dup (F12)	XP_011532764.1:p.Asp107Ter
XM_011534462.2:c.318dup (F12)	XP_011532764.1:p.Asp107Ter
XM_017009773.2:c.1417-7119dup (SLC34A1)	XP_016865262.1:n.1417-7119dup
NM_000505.4:c.654dup (F12) MANE Select	NP_000496.2:p.Asp219Ter