Canonical Allele Identifier: CA2631641419
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797642del , CM000678.2:g.8797642del GRCh38
NC_000016.9:g.8891499del , CM000678.1:g.8891499del GRCh37
NC_000016.8:g.8799000del NCBI36
NG_009209.1:g.4830del
NG_033146.1:g.5009del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.6:c.-26del (TMEM186) ENSP00000331640.6:n.-26del
ENST00000564869.1:n.3del (TMEM186)
ENST00000566983.5:c.-15-4157del (PMM2) ENSP00000457956.1:n.-15-4157del
NM_015421.3:c.-26del (TMEM186) NP_056236.2:n.-26del