Canonical Allele Identifier: CA725520736
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1477383028
gnomAD v3: 16-8797616-GC-G
gnomAD v4: 16-8797616-GC-G
MyVariant Identifiers: chr16:g.8891474del (hg19) chr16:g.8797617del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797620del , CM000678.2:g.8797620del GRCh38
NC_000016.9:g.8891477del , CM000678.1:g.8891477del GRCh37
NC_000016.8:g.8798978del NCBI36
NG_009209.1:g.4808del
NG_033146.1:g.5032del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.-3del (TMEM186) MANE Select ENSP00000331640.6:n.-3del
ENST00000333050.6:c.-3del (TMEM186) ENSP00000331640.6:n.-3del
ENST00000564869.1:n.26del (TMEM186)
ENST00000566983.5:c.-15-4179del (PMM2) ENSP00000457956.1:n.-15-4179del
NM_015421.3:c.-3del (TMEM186) NP_056236.2:n.-3del
NM_015421.4:c.-3del (TMEM186) MANE Select NP_056236.2:n.-3del
Search 100 bp 5'
Search 100 bp 3'