Canonical Allele Identifier: CA2573133476
Community Standard Title: NM_024753.5(TTC21B):c.2393_2394delinsAA (p.Leu798Gln)
Gene: TTC21B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165911394_165911395delinsTT , CM000664.2:g.165911394_165911395delinsTT GRCh38
NC_000002.11:g.166767904_166767905delinsTT , CM000664.1:g.166767904_166767905delinsTT GRCh37
NC_000002.10:g.166476150_166476151delinsTT NCBI36
NG_030345.1:g.47444_47445delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_024753.5:c.2393_2394delinsAA MANE Select NP_079029.3:p.Leu798Gln
ENST00000243344.8:c.2393_2394delinsAA MANE Select ENSP00000243344.7:p.Leu798Gln
NM_024753.4:c.2393_2394delinsAA NP_079029.3:p.Leu798Gln
ENST00000243344.7:c.2393_2394delinsAA ENSP00000243344.7:p.Leu798Gln
ENST00000652557.1:c.2393_2394delinsAA ENSP00000498617.1:p.Leu798Gln
ENST00000679356.1:c.2393_2394delinsAA ENSP00000506245.1:p.Leu798Gln
ENST00000679671.1:n.2506_2507delinsAA
ENST00000679676.1:c.2282_2283delinsAA ENSP00000505492.1:p.Leu761Gln
ENST00000679799.1:c.2393_2394delinsAA ENSP00000505208.1:p.Leu798Gln
ENST00000679840.1:c.2393_2394delinsAA ENSP00000505248.1:p.Leu798Gln
ENST00000679931.1:c.*1435_*1436delinsAA ENSP00000505632.1:n.*1435_*1436delinsAA
ENST00000679967.1:c.2393_2394delinsAA ENSP00000506607.1:p.Leu798Gln
ENST00000680327.1:c.*1435_*1436delinsAA ENSP00000506639.1:n.*1435_*1436delinsAA
ENST00000680448.1:c.2393_2394delinsAA ENSP00000505921.1:p.Leu798Gln
ENST00000680657.1:n.2504_2505delinsAA
ENST00000680690.1:c.*1645_*1646delinsAA ENSP00000506121.1:n.*1645_*1646delinsAA
ENST00000680888.1:c.2393_2394delinsAA ENSP00000506276.1:p.Leu798Gln
ENST00000680947.1:c.*1665_*1666delinsAA ENSP00000506496.1:n.*1665_*1666delinsAA
ENST00000681024.1:c.2393_2394delinsAA ENSP00000506449.1:p.Leu798Gln
ENST00000681083.1:c.*2127_*2128delinsAA ENSP00000506095.1:n.*2127_*2128delinsAA
ENST00000681167.1:n.2267_2268delinsAA
ENST00000681483.1:c.2393_2394delinsAA ENSP00000505499.1:p.Leu798Gln
ENST00000681502.1:c.*1817_*1818delinsAA ENSP00000505644.1:n.*1817_*1818delinsAA
ENST00000681606.1:c.2393_2394delinsAA ENSP00000505354.1:p.Leu798Gln
ENST00000681819.1:c.2393_2394delinsAA ENSP00000505673.1:p.Leu798Gln
ENST00000681952.1:c.2393_2394delinsAA ENSP00000506400.1:p.Leu798Gln
XM_006712761.1:c.2393_2394delinsAA XP_006712824.1:p.Leu798Gln
XM_011511870.1:c.1826_1827delinsAA XP_011510172.1:p.Leu609Gln
XM_011511871.1:c.1643_1644delinsAA XP_011510173.1:p.Leu548Gln
XM_011511871.3:c.1643_1644delinsAA XP_011510173.1:p.Leu548Gln
XM_011511872.1:c.2393_2394delinsAA XP_011510174.1:p.Leu798Gln
XM_011511872.2:c.2393_2394delinsAA XP_011510174.1:p.Leu798Gln
XM_017004967.1:c.2393_2394delinsAA XP_016860456.1:p.Leu798Gln
XM_017004968.2:c.1739_1740delinsAA XP_016860457.1:p.Leu580Gln
XM_017004969.1:c.1394_1395delinsAA XP_016860458.1:p.Leu465Gln