Canonical Allele Identifier: CA549307496
Gene: MSANTD1 HGNC NCBI

Linked Data

dbSNP Id: rs1308457068
gnomAD v2: 4-3258620-AGCAGCCAGGCCACGGAAGCCCGT-A
gnomAD v3: 4-3256893-AGCAGCCAGGCCACGGAAGCCCGT-A
gnomAD v4: 4-3256893-AGCAGCCAGGCCACGGAAGCCCGT-A
MyVariant Identifiers: chr4:g.3258621_3258643del (hg19) chr4:g.3256894_3256916del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3256900_3256922del , CM000666.2:g.3256900_3256922del GRCh38
NC_000004.11:g.3258627_3258649del , CM000666.1:g.3258627_3258649del GRCh37
NC_000004.10:g.3228425_3228447del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000505599.5:c.729+1043_729+1065del ENSP00000425405.1:n.729+1043_729+1065del
ENST00000510580.1:c.765+1007_765+1029del ENSP00000420966.1:n.765+1007_765+1029del
XM_011513464.1:c.729+1043_729+1065del XP_011511766.1:n.729+1043_729+1065del
XR_924950.1:n.753+1043_753+1065del
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