Canonical Allele Identifier: CA925450552
Gene: MRC1 HGNC NCBI

Linked Data

gnomAD v3: 10-17849714-GT-G
gnomAD v4: 10-17849714-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849715del , CM000672.2:g.17849715del GRCh38
NG_047011.1:g.45373del

Transcript Alleles

HGVS Amino-acid Change
ENST00000569591.3:c.1200del MANE Select ENSP00000455897.1:p.Ser400ArgfsTer15
ENST00000569591.2:c.1200del ENSP00000455897.1:p.Ser400ArgfsTer15
NM_002438.3:c.1200del NP_002429.1:p.Ser400ArgfsTer15
NM_002438.4:c.1200del MANE Select NP_002429.1:p.Ser400ArgfsTer15
Search 100 bp 5'
Search 100 bp 3'