Canonical Allele Identifier: CA2975851768
Community Standard Title: NM_031433.4(MFRP):c.1387+16dup
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119342583dup , CM000673.2:g.119342583dup GRCh38
NC_000011.9:g.119213293dup , CM000673.1:g.119213293dup GRCh37
NC_000011.8:g.118718503dup NCBI36
NG_012235.1:g.9094dup

Transcript Alleles

HGVS Amino-acid Change
NM_031433.4:c.1387+16dup (MFRP) MANE Select NP_113621.1:n.1387+16dup
ENST00000619721.6:c.1387+16dup (MFRP) MANE Select ENSP00000481824.1:n.1387+16dup
NM_015645.4:c.-1250+16dup (C1QTNF5) NP_056460.1:n.-1250+16dup
NM_015645.5:c.-1250+16dup (C1QTNF5) NP_056460.1:n.-1250+16dup
NM_031433.3:c.1387+16dup (MFRP) NP_113621.1:n.1387+16dup
ENST00000360167.4:c.1161+16dup (MFRP) ENSP00000353291.4:n.1161+16dup
ENST00000449574.7:c.258+16dup (MFRP)
ENST00000619721.5:c.1387+16dup (MFRP) ENSP00000481824.1:n.1387+16dup