Canonical Allele Identifier: CA7902848
Gene: PRM1 HGNC NCBI
RMI2 HGNC NCBI

Linked Data

dbSNP Id: rs767177752
ExAC: 16:11375097 G / GTGCAGGA
gnomAD v2: 16-11375097-G-GTGCAGGA
gnomAD v3: 16-11281240-G-GTGCAGGA
gnomAD v4: 16-11281240-G-GTGCAGGA
MyVariant Identifiers: chr16:g.11375097_11375098insTGCAGGA (hg19) chr16:g.11281240_11281241insTGCAGGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281243_11281249dup , CM000678.2:g.11281243_11281249dup GRCh38
NC_000016.9:g.11375100_11375106dup , CM000678.1:g.11375100_11375106dup GRCh37
NC_000016.8:g.11282601_11282607dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000312511.4:c.-9_-3dup (PRM1) MANE Select ENSP00000310515.3:n.-9_-3dup
ENST00000649869.1:n.152+31465_152+31471dup (RMI2)
ENST00000312511.3:c.-9_-3dup (PRM1) ENSP00000310515.3:n.-9_-3dup
ENST00000572173.1:c.-515-13973_-515-13967dup (RMI2) ENSP00000461206.1:n.-515-13973_-515-13967...
ENST00000573910.1:n.160+31465_160+31471dup (RMI2)
NM_002761.2:c.-9_-3dup (PRM1) NP_002752.1:n.-9_-3dup
XR_933070.1:n.733+31465_733+31471dup
XR_933070.3:n.876+31465_876+31471dup
NM_002761.3:c.-9_-3dup (PRM1) MANE Select NP_002752.1:n.-9_-3dup
Search 100 bp 5'
Search 100 bp 3'