Canonical Allele Identifier: CA2676711774

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404587-AGGGCGCACCCGAGAGCGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404588_177404607del , CM000667.2:g.177404588_177404607del	GRCh38
NC_000005.9:g.176831589_176831608del , CM000667.1:g.176831589_176831608del	GRCh37
NC_000005.8:g.176764195_176764214del	NCBI36
NG_007568.1:g.9970_9989del , LRG_145:g.9970_9989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*358_*377del (F12)	ENSP00000512476.1:n.*358_*377del
ENST00000696193.1:c.*1062_*1081del (F12)	ENSP00000512477.1:n.*1062_*1081del
ENST00000696194.1:c.*282_*301del (F12)	ENSP00000512478.1:n.*282_*301del
ENST00000696195.1:n.3495_3514del (F12)
ENST00000696200.1:n.795_814del (F12)
ENST00000696201.1:c.692_711del (F12)	ENSP00000512482.1:p.Thr231MetfsTer?
ENST00000253496.4:c.692_711del (F12) MANE Select	ENSP00000253496.3:p.Thr231MetfsTer?
ENST00000253496.3:c.692_711del (F12)	ENSP00000253496.3:p.Thr231MetfsTer?
ENST00000502598.5:c.-45+1062_-45+1081del (GRK6)	ENSP00000422873.1:n.-45+1062_-45+1081del
ENST00000503736.1:n.173-194_173-175del (F12)
ENST00000506296.5:c.-45+31_-45+50del (GRK6)	ENSP00000421055.1:n.-45+31_-45+50del
NM_000505.3:c.692_711del , LRG_145t1:c.692_711del (F12)	NP_000496.2:p.Thr231MetfsTer?
XM_011534461.1:c.692_711del (F12)	XP_011532763.1:p.Thr231MetfsTer?
XM_011534462.1:c.356_375del (F12)	XP_011532764.1:p.Thr119MetfsTer?
XM_011534462.2:c.356_375del (F12)	XP_011532764.1:p.Thr119MetfsTer?
XM_017009773.2:c.1417-7176_1417-7157del (SLC34A1)	XP_016865262.1:n.1417-7176_1417-7157del
NM_000505.4:c.692_711del (F12) MANE Select	NP_000496.2:p.Thr231MetfsTer?