Canonical Allele Identifier: CA2628334495
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48474429-C-CCTTTCTGTTTT
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474429_48474430insCTTTCTGTTTT , CM000677.2:g.48474429_48474430insCTTTCTGTTTT GRCh38
NC_000015.9:g.48766626_48766627insCTTTCTGTTTT , CM000677.1:g.48766626_48766627insCTTTCTGTTTT GRCh37
NC_000015.8:g.46553918_46553919insCTTTCTGTTTT NCBI36
NG_008805.2:g.176359_176360insAAAACAGAAAG , LRG_778:g.176359_176360insAAAACAGAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4088-53_4088-52insAAAACAGAAAG ENSP00000453958.2:n.4088-53_4088-52insAAAACAGAAAG
ENST00000674301.2:c.4088-53_4088-52insAAAACAGAAAG ENSP00000501333.2:n.4088-53_4088-52insAAAACAGAAAG
ENST00000684448.1:n.2762-53_2762-52insAAAACAGAAAG
ENST00000316623.10:c.4088-53_4088-52insAAAACAGAAAG MANE Select ENSP00000325527.5:n.4088-53_4088-52insAAAACAGAAAG
ENST00000316623.9:c.4088-53_4088-52insAAAACAGAAAG ENSP00000325527.5:n.4088-53_4088-52insAAAACAGAAAG
ENST00000537463.6:c.760-53_760-52insAAAACAGAAAG ENSP00000440294.2:n.760-53_760-52insAAAACAGAAAG
NM_000138.4:c.4088-53_4088-52insAAAACAGAAAG , LRG_778t1:c.4088-53_4088-52insAAAACAGAAAG NP_000129.3:n.4088-53_4088-52insAAAACAGAAAG
NM_000138.5:c.4088-53_4088-52insAAAACAGAAAG MANE Select NP_000129.3:n.4088-53_4088-52insAAAACAGAAAG
Search 100 bp 5'
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