Canonical Allele Identifier: CA2676710967
Gene: F12 HGNC NCBI
GRK6 HGNC NCBI
SLC34A1 HGNC NCBI

Linked Data

gnomAD v4: 5-177404028-G-GC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404031dup , CM000667.2:g.177404031dup GRCh38
NC_000005.9:g.176831032dup , CM000667.1:g.176831032dup GRCh37
NC_000005.8:g.176763638dup NCBI36
NG_007568.1:g.10548dup , LRG_145:g.10548dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*746dup (F12) ENSP00000512476.1:n.*746dup
ENST00000696193.1:c.*1467dup (F12) ENSP00000512477.1:n.*1467dup
ENST00000696194.1:c.*670dup (F12) ENSP00000512478.1:n.*670dup
ENST00000696195.1:n.3883dup (F12)
ENST00000696200.1:n.1183dup (F12)
ENST00000696201.1:c.1080dup (F12) ENSP00000512482.1:p.Gln361AlafsTer?
ENST00000253496.4:c.1080dup (F12) MANE Select ENSP00000253496.3:p.Gln361AlafsTer?
ENST00000253496.3:c.1080dup (F12) ENSP00000253496.3:p.Gln361AlafsTer?
ENST00000502598.5:c.-45+505dup (GRK6) ENSP00000422873.1:n.-45+505dup
ENST00000502854.5:n.339dup (F12)
ENST00000503736.1:n.452dup (F12)
ENST00000510358.5:n.444dup (F12)
NM_000505.3:c.1080dup , LRG_145t1:c.1080dup (F12) NP_000496.2:p.Gln361AlafsTer?
XM_011534461.1:c.1080dup (F12) XP_011532763.1:p.Gln361AlafsTer?
XM_011534462.1:c.744dup (F12) XP_011532764.1:p.Gln249AlafsTer?
XM_011534462.2:c.744dup (F12) XP_011532764.1:p.Gln249AlafsTer?
XM_017009773.2:c.1416+6957dup (SLC34A1) XP_016865262.1:n.1416+6957dup
NM_000505.4:c.1080dup (F12) MANE Select NP_000496.2:p.Gln361AlafsTer?
Search 100 bp 5'
Search 100 bp 3'