Canonical Allele Identifier: CA2830540094
Gene: GEMIN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154898675_154898678del , CM000667.2:g.154898675_154898678del GRCh38
NC_000005.9:g.154278235_154278238del , CM000667.1:g.154278235_154278238del GRCh37
NC_000005.8:g.154258428_154258431del NCBI36
NG_052854.1:g.44541_44544del

Transcript Alleles

HGVS Amino-acid Change
ENST00000285873.8:c.3135-26_3135-23del MANE Select ENSP00000285873.6:n.3135-26_3135-23del
ENST00000285873.7:c.3135-26_3135-23del ENSP00000285873.6:n.3135-26_3135-23del
NM_001252156.1:c.3132-26_3132-23del NP_001239085.1:n.3132-26_3132-23del
NM_015465.4:c.3135-26_3135-23del NP_056280.2:n.3135-26_3135-23del
NM_015465.5:c.3135-26_3135-23del MANE Select NP_056280.2:n.3135-26_3135-23del
NM_001252156.2:c.3132-26_3132-23del NP_001239085.1:n.3132-26_3132-23del