Canonical Allele Identifier: CA2673231730
Gene: CMBL HGNC NCBI

Linked Data

gnomAD v4: 5-10286406-G-GTGTTCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286406_10286407insTGTTCC , CM000667.2:g.10286406_10286407insTGTTCC GRCh38
NC_000005.9:g.10286518_10286519insTGTTCC , CM000667.1:g.10286518_10286519insTGTTCC GRCh37
NC_000005.8:g.10339518_10339519insTGTTCC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.413_414insGGAACA MANE Select ENSP00000296658.3:p.Val138_His139insGluHis
ENST00000296658.3:c.413_414insGGAACA ENSP00000296658.3:p.Val138_His139insGluHis
ENST00000506821.1:n.667_668insGGAACA
ENST00000510532.5:n.481_482insGGAACA
ENST00000511963.5:n.521_522insGGAACA
NM_138809.3:c.413_414insGGAACA NP_620164.1:p.Val138_His139insGluHis
NM_138809.4:c.413_414insGGAACA MANE Select NP_620164.1:p.Val138_His139insGluHis
Search 100 bp 5'
Search 100 bp 3'