Canonical Allele Identifier: CA2676711676

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404528-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404530dup , CM000667.2:g.177404530dup	GRCh38
NC_000005.9:g.176831531dup , CM000667.1:g.176831531dup	GRCh37
NC_000005.8:g.176764137dup	NCBI36
NG_007568.1:g.10048dup , LRG_145:g.10048dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*436dup (F12)	ENSP00000512476.1:n.*436dup
ENST00000696193.1:c.*1140dup (F12)	ENSP00000512477.1:n.*1140dup
ENST00000696194.1:c.*360dup (F12)	ENSP00000512478.1:n.*360dup
ENST00000696195.1:n.3573dup (F12)
ENST00000696200.1:n.873dup (F12)
ENST00000696201.1:c.770dup (F12)	ENSP00000512482.1:p.Asn257LysfsTer?
ENST00000253496.4:c.770dup (F12) MANE Select	ENSP00000253496.3:p.Asn257LysfsTer?
ENST00000253496.3:c.770dup (F12)	ENSP00000253496.3:p.Asn257LysfsTer?
ENST00000502598.5:c.-45+1004dup (GRK6)	ENSP00000422873.1:n.-45+1004dup
ENST00000503736.1:n.173-116dup (F12)
ENST00000506296.5:c.-72dup (GRK6)	ENSP00000421055.1:n.-72dup
NM_000505.3:c.770dup , LRG_145t1:c.770dup (F12)	NP_000496.2:p.Asn257LysfsTer?
XM_011534461.1:c.770dup (F12)	XP_011532763.1:p.Asn257LysfsTer?
XM_011534462.1:c.434dup (F12)	XP_011532764.1:p.Asn145LysfsTer?
XM_011534462.2:c.434dup (F12)	XP_011532764.1:p.Asn145LysfsTer?
XM_017009773.2:c.1417-7234dup (SLC34A1)	XP_016865262.1:n.1417-7234dup
NM_000505.4:c.770dup (F12) MANE Select	NP_000496.2:p.Asn257LysfsTer?