Canonical Allele Identifier: CA2741467322

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281099_11281104dup , CM000678.2:g.11281099_11281104dup GRCh38
NC_000016.9:g.11374956_11374961dup , CM000678.1:g.11374956_11374961dup GRCh37
NC_000016.8:g.11282457_11282462dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000312511.4:c.112+29_112+34dup (PRM1) MANE Select ENSP00000310515.3:n.112+29_112+34dup
ENST00000649869.1:n.152+31321_152+31326dup (RMI2)
ENST00000312511.3:c.112+29_112+34dup (PRM1) ENSP00000310515.3:n.112+29_112+34dup
ENST00000572173.1:c.-515-14117_-515-14112dup (RMI2) ENSP00000461206.1:n.-515-14117_-515-14112dup
ENST00000573910.1:n.160+31321_160+31326dup (RMI2)
NM_002761.2:c.112+29_112+34dup (PRM1) NP_002752.1:n.112+29_112+34dup
XR_933070.1:n.733+31321_733+31326dup
XR_933070.3:n.876+31321_876+31326dup
NM_002761.3:c.112+29_112+34dup (PRM1) MANE Select NP_002752.1:n.112+29_112+34dup