Canonical Allele Identifier: CA1555784308

Linked Data

dbSNP Id: rs1579959513

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74721651del , CM000667.2:g.74721651del GRCh38
NC_000005.9:g.74017476del , CM000667.1:g.74017476del GRCh37
NC_000005.8:g.74053232del NCBI36
NG_009770.1:g.41508del
NG_011531.1:g.50570del
NG_009770.2:g.86629del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.*7del (GFM2) MANE Select ENSP00000296805.3:n.*7del
ENST00000296805.7:c.*7del (GFM2) ENSP00000296805.3:n.*7del
ENST00000345239.6:c.*7del (GFM2) ENSP00000296804.3:n.*7del
ENST00000503312.5:c.608+215del (HEXB)
ENST00000505859.1:c.255+215del (HEXB)
ENST00000509430.5:c.*7del (GFM2) ENSP00000427004.1:n.*7del
ENST00000513867.1:n.380+215del (HEXB)
ENST00000515125.5:n.750del (GFM2)
NM_001281302.1:c.*7del (GFM2) NP_001268231.1:n.*7del
NM_032380.4:c.*7del (GFM2) NP_115756.2:n.*7del
NM_170691.2:c.*7del (GFM2) NP_733792.1:n.*7del
NR_104006.1:n.2666del (GFM2)
XM_006714721.2:c.*7del (GFM2) XP_006714784.1:n.*7del
XM_011543690.1:c.*7del (GFM2) XP_011541992.1:n.*7del
XM_017009986.1:c.*7del (GFM2) XP_016865475.1:n.*7del
XR_002956185.1:n.3633del (GFM2)
NM_032380.5:c.*7del (GFM2) MANE Select NP_115756.2:n.*7del
NM_001281302.2:c.*7del (GFM2) NP_001268231.1:n.*7del
NM_170691.3:c.*7del (GFM2) NP_733792.1:n.*7del
NR_104006.2:n.2412del (GFM2)