Canonical Allele Identifier: CA645586969

Gene: GEMIN4

Linked Data

• COSMIC: COSM5387083 ; COSM5387084

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745787_745788delinsTT , CM000679.2:g.745787_745788delinsTT	GRCh38
NC_000017.10:g.649027_649028delinsTT , CM000679.1:g.649027_649028delinsTT	GRCh37
NC_000017.9:g.595777_595778delinsTT	NCBI36
NG_046938.1:g.12085_12086delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2255_2256delinsAA MANE Select	ENSP00000321706.5:p.Trp752Ter
ENST00000319004.5:c.2255_2256delinsAA	ENSP00000321706.5:p.Trp752Ter
ENST00000576778.1:c.2222_2223delinsAA	ENSP00000459565.1:p.Trp741Ter
NM_015721.2:c.2255_2256delinsAA	NP_056536.2:p.Trp752Ter
XM_005256667.3:c.2267_2268delinsAA	XP_005256724.1:p.Trp756Ter
XM_005256668.3:c.2267_2268delinsAA	XP_005256725.1:p.Trp756Ter
XM_005256670.3:c.2222_2223delinsAA	XP_005256727.1:p.Trp741Ter
XM_011523910.1:c.2267_2268delinsAA	XP_011522212.1:p.Trp756Ter
XM_011523911.1:c.2267_2268delinsAA	XP_011522213.1:p.Trp756Ter
XM_011523912.1:c.2222_2223delinsAA	XP_011522214.1:p.Trp741Ter
XM_011523913.1:c.2222_2223delinsAA	XP_011522215.1:p.Trp741Ter
XM_005256667.4:c.2267_2268delinsAA	XP_005256724.1:p.Trp756Ter
XM_005256670.5:c.2222_2223delinsAA	XP_005256727.1:p.Trp741Ter
XM_011523910.2:c.2267_2268delinsAA	XP_011522212.1:p.Trp756Ter
XM_011523911.2:c.2267_2268delinsAA	XP_011522213.1:p.Trp756Ter
XM_011523912.2:c.2222_2223delinsAA	XP_011522214.1:p.Trp741Ter
XM_011523913.2:c.2222_2223delinsAA	XP_011522215.1:p.Trp741Ter
XM_017024709.1:c.2267_2268delinsAA	XP_016880198.1:p.Trp756Ter
NM_015721.3:c.2255_2256delinsAA MANE Select	NP_056536.2:p.Trp752Ter