Canonical Allele Identifier: CA1110470449
Gene: MFHAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1808796973
gnomAD v3: 8-8864832-GA-G
gnomAD v4: 8-8864832-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864833del , CM000670.2:g.8864833del GRCh38
NC_000008.10:g.8722343del , CM000670.1:g.8722343del GRCh37
NC_000008.9:g.8759753del NCBI36
NG_009444.1:g.33789del

Transcript Alleles

HGVS Amino-acid Change
ENST00000276282.7:c.2998+25228del MANE Select ENSP00000276282.6:n.2998+25228del
ENST00000276282.6:c.2998+25228del ENSP00000276282.6:n.2998+25228del
NM_004225.2:c.2998+25228del NP_004216.2:n.2998+25228del
XR_246634.2:n.3534+25228del
XM_024447330.1:c.2998+25228del XP_024303098.1:n.2998+25228del
NM_004225.3:c.2998+25228del MANE Select NP_004216.2:n.2998+25228del
Search 100 bp 5'
Search 100 bp 3'