Canonical Allele Identifier: CA2646882445
Gene: AKNAD1 HGNC NCBI
GPSM2 HGNC NCBI

Linked Data

gnomAD v4: 1-108876893-CCCCGCCCCGCTGCGCCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.108876900_108876916del , CM000663.2:g.108876900_108876916del GRCh38
NC_000001.10:g.109419522_109419538del , CM000663.1:g.109419522_109419538del GRCh37
NC_000001.9:g.109221045_109221061del NCBI36
NG_028108.1:g.4920_4936del
NG_028108.2:g.6551_6567del

Transcript Alleles

HGVS Amino-acid change
ENST00000357393.6:c.1-27334_1-27318del (AKNAD1) ENSP00000349968.6:n.1-27334_1-27318del
ENST00000357393.5:c.115-27334_115-27318del ENSP00000349968.5:n.115-27334_115-27318del
ENST00000406462.6:c.-577_-561del (GPSM2) ENSP00000385510.1:n.-577_-561del
XM_005270787.2:c.-345_-329del (GPSM2) XP_005270844.1:n.-345_-329del
XM_006710589.1:c.-330_-314del (GPSM2) XP_006710652.1:n.-330_-314del
XM_011541301.1:c.-577_-561del (GPSM2) XP_011539603.1:n.-577_-561del
XM_011541303.1:c.-577_-561del (GPSM2) XP_011539605.1:n.-577_-561del
XM_006710589.3:c.-330_-314del (GPSM2) XP_006710652.1:n.-330_-314del
XM_011541301.2:c.-577_-561del (GPSM2) XP_011539603.1:n.-577_-561del
XM_011541302.3:c.-821_-805del (GPSM2) XP_011539604.1:n.-821_-805del
XM_011541303.3:c.-577_-561del (GPSM2) XP_011539605.1:n.-577_-561del
XM_017001097.2:c.-727_-711del (GPSM2) XP_016856586.1:n.-727_-711del
XM_017001098.2:c.-495_-479del (GPSM2) XP_016856587.1:n.-495_-479del
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