Canonical Allele Identifier: CA624456765

Gene: GEMIN4

Linked Data

• dbSNP Id: rs746502473
• gnomAD v2: 17-649140-G-GTCTCAAAAAATAAAAATAAAATAAAT
• MyVariant Identifiers: chr17:g.649140_649141insTCTCAAAAAATAAAAATAAAATAAAT (hg19) ; chr17:g.745900_745901insTCTCAAAAAATAAAAATAAAATAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745900_745901insTCTCAAAAAATAAAAATAAAATAAAT , CM000679.2:g.745900_745901insTCTCAAAAAATAAAAATAAAATAAAT	GRCh38
NC_000017.10:g.649140_649141insTCTCAAAAAATAAAAATAAAATAAAT , CM000679.1:g.649140_649141insTCTCAAAAAATAAAAATAAAATAAAT	GRCh37
NC_000017.9:g.595890_595891insTCTCAAAAAATAAAAATAAAATAAAT	NCBI36
NG_046938.1:g.11972_11973insATTTATTTTATTTTTATTTTTTGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2142_2143insATTTATTTTATTTTTATTTTTTGAGA MANE Select	ENSP00000321706.5:p.Pro715IlefsTer8
ENST00000319004.5:c.2142_2143insATTTATTTTATTTTTATTTTTTGAGA	ENSP00000321706.5:p.Pro715IlefsTer8
ENST00000576778.1:c.2109_2110insATTTATTTTATTTTTATTTTTTGAGA	ENSP00000459565.1:p.Pro704IlefsTer8
NM_015721.2:c.2142_2143insATTTATTTTATTTTTATTTTTTGAGA	NP_056536.2:p.Pro715IlefsTer8
XM_005256667.3:c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA	XP_005256724.1:p.Pro719IlefsTer8
XM_005256668.3:c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA	XP_005256725.1:p.Pro719IlefsTer8
XM_005256670.3:c.2109_2110insATTTATTTTATTTTTATTTTTTGAGA	XP_005256727.1:p.Pro704IlefsTer8
XM_011523910.1:c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA	XP_011522212.1:p.Pro719IlefsTer8
XM_011523911.1:c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA	XP_011522213.1:p.Pro719IlefsTer8
XM_011523912.1:c.2109_2110insATTTATTTTATTTTTATTTTTTGAGA	XP_011522214.1:p.Pro704IlefsTer8
XM_011523913.1:c.2109_2110insATTTATTTTATTTTTATTTTTTGAGA	XP_011522215.1:p.Pro704IlefsTer8
XM_005256667.4:c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA	XP_005256724.1:p.Pro719IlefsTer8
XM_005256670.5:c.2109_2110insATTTATTTTATTTTTATTTTTTGAGA	XP_005256727.1:p.Pro704IlefsTer8
XM_011523910.2:c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA	XP_011522212.1:p.Pro719IlefsTer8
XM_011523911.2:c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA	XP_011522213.1:p.Pro719IlefsTer8
XM_011523912.2:c.2109_2110insATTTATTTTATTTTTATTTTTTGAGA	XP_011522214.1:p.Pro704IlefsTer8
XM_011523913.2:c.2109_2110insATTTATTTTATTTTTATTTTTTGAGA	XP_011522215.1:p.Pro704IlefsTer8
XM_017024709.1:c.2154_2155insATTTATTTTATTTTTATTTTTTGAGA	XP_016880198.1:p.Pro719IlefsTer8
NM_015721.3:c.2142_2143insATTTATTTTATTTTTATTTTTTGAGA MANE Select	NP_056536.2:p.Pro715IlefsTer8