Canonical Allele Identifier: CA7902782
Gene: PRM1 HGNC NCBI
RMI2 HGNC NCBI

Linked Data

dbSNP Id: rs773742354
ExAC: 16:11374852 GTGTCTTCTACATCGCGGT / G
gnomAD v2: 16-11374852-GTGTCTTCTACATCGCGGT-G
gnomAD v3: 16-11280995-GTGTCTTCTACATCGCGGT-G
gnomAD v4: 16-11280995-GTGTCTTCTACATCGCGGT-G
MyVariant Identifiers: chr16:g.11374853_11374870del (hg19) chr16:g.11280996_11281013del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11280996_11281013del , CM000678.2:g.11280996_11281013del GRCh38
NC_000016.9:g.11374853_11374870del , CM000678.1:g.11374853_11374870del GRCh37
NC_000016.8:g.11282354_11282371del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000312511.4:c.135_152del (PRM1) MANE Select ENSP00000310515.3:p.Arg45_His51delinsSer
ENST00000649869.1:n.152+31218_152+31235del (RMI2)
ENST00000312511.3:c.135_152del (PRM1) ENSP00000310515.3:p.Arg45_His51delinsSer
ENST00000572173.1:c.-515-14220_-515-14203del (RMI2) ENSP00000461206.1:n.-515-14220_-515-14203del
ENST00000573910.1:n.160+31218_160+31235del (RMI2)
NM_002761.2:c.135_152del (PRM1) NP_002752.1:p.Arg45_His51delinsSer
XR_933070.1:n.733+31218_733+31235del
XR_933070.3:n.876+31218_876+31235del
NM_002761.3:c.135_152del (PRM1) MANE Select NP_002752.1:p.Arg45_His51delinsSer
Search 100 bp 5'
Search 100 bp 3'