Canonical Allele Identifier: CA286713652
Gene: GEMIN4 HGNC NCBI

Linked Data

dbSNP Id: rs34549090

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.745588dup , CM000679.2:g.745588dup GRCh38
NC_000017.10:g.648828dup , CM000679.1:g.648828dup GRCh37
NC_000017.9:g.595578dup NCBI36
NG_046938.1:g.12285dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000319004.6:c.2455dup MANE Select ENSP00000321706.5:p.Met819AsnfsTer26
ENST00000319004.5:c.2455dup ENSP00000321706.5:p.Met819AsnfsTer26
ENST00000576778.1:c.2422dup ENSP00000459565.1:p.Met808AsnfsTer26
NM_015721.2:c.2455dup NP_056536.2:p.Met819AsnfsTer26
XM_005256667.3:c.2467dup XP_005256724.1:p.Met823AsnfsTer26
XM_005256668.3:c.2467dup XP_005256725.1:p.Met823AsnfsTer26
XM_005256670.3:c.2422dup XP_005256727.1:p.Met808AsnfsTer26
XM_011523910.1:c.2467dup XP_011522212.1:p.Met823AsnfsTer26
XM_011523911.1:c.2467dup XP_011522213.1:p.Met823AsnfsTer26
XM_011523912.1:c.2422dup XP_011522214.1:p.Met808AsnfsTer26
XM_011523913.1:c.2422dup XP_011522215.1:p.Met808AsnfsTer26
XM_005256667.4:c.2467dup XP_005256724.1:p.Met823AsnfsTer26
XM_005256670.5:c.2422dup XP_005256727.1:p.Met808AsnfsTer26
XM_011523910.2:c.2467dup XP_011522212.1:p.Met823AsnfsTer26
XM_011523911.2:c.2467dup XP_011522213.1:p.Met823AsnfsTer26
XM_011523912.2:c.2422dup XP_011522214.1:p.Met808AsnfsTer26
XM_011523913.2:c.2422dup XP_011522215.1:p.Met808AsnfsTer26
XM_017024709.1:c.2467dup XP_016880198.1:p.Met823AsnfsTer26
NM_015721.3:c.2455dup MANE Select NP_056536.2:p.Met819AsnfsTer26