Canonical Allele Identifier: CA2819165868
Gene: FBLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45566038_45566039del , CM000684.2:g.45566038_45566039del GRCh38
NC_000022.10:g.45961918_45961919del , CM000684.1:g.45961918_45961919del GRCh37
NC_000022.9:g.44340582_44340583del NCBI36
NG_023308.2:g.68200_68201del

Transcript Alleles

HGVS Amino-acid change
ENST00000327858.11:c.1698-8473_1698-8472del MANE Select ENSP00000331544.6:n.1698-8473_1698-8472del
ENST00000327858.10:c.1698-8473_1698-8472del ENSP00000331544.6:n.1698-8473_1698-8472del
NM_006486.2:c.1698-8473_1698-8472del NP_006477.2:n.1698-8473_1698-8472del
NM_006486.3:c.1698-8473_1698-8472del MANE Select NP_006477.3:n.1698-8473_1698-8472del
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