Canonical Allele Identifier: CA2842635701

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404128dup , CM000667.2:g.177404128dup GRCh38
NC_000005.9:g.176831129dup , CM000667.1:g.176831129dup GRCh37
NC_000005.8:g.176763735dup NCBI36
NG_007568.1:g.10450dup , LRG_145:g.10450dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*685-37dup (F12) ENSP00000512476.1:n.*685-37dup
ENST00000696193.1:c.*1389-20dup (F12) ENSP00000512477.1:n.*1389-20dup
ENST00000696194.1:c.*609-37dup (F12) ENSP00000512478.1:n.*609-37dup
ENST00000696195.1:n.3822-37dup (F12)
ENST00000696200.1:n.1122-37dup (F12)
ENST00000696201.1:c.1019-37dup (F12) ENSP00000512482.1:n.1019-37dup
ENST00000253496.4:c.1019-37dup (F12) MANE Select ENSP00000253496.3:n.1019-37dup
ENST00000253496.3:c.1019-37dup (F12) ENSP00000253496.3:n.1019-37dup
ENST00000502598.5:c.-45+602dup (GRK6) ENSP00000422873.1:n.-45+602dup
ENST00000502854.5:n.278-37dup (F12)
ENST00000503736.1:n.391-37dup (F12)
ENST00000510358.5:n.346dup (F12)
NM_000505.3:c.1019-37dup , LRG_145t1:c.1019-37dup (F12) NP_000496.2:n.1019-37dup
XM_011534461.1:c.1019-37dup (F12) XP_011532763.1:n.1019-37dup
XM_011534462.1:c.683-37dup (F12) XP_011532764.1:n.683-37dup
XM_011534462.2:c.683-37dup (F12) XP_011532764.1:n.683-37dup
XM_017009773.2:c.1416+7054dup (SLC34A1) XP_016865262.1:n.1416+7054dup
NM_000505.4:c.1019-37dup (F12) MANE Select NP_000496.2:n.1019-37dup