Canonical Allele Identifier: CA2628333062
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48436902-TACTGTATAGCTTAATTTTTAATTTGTAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48436904_48436931del , CM000677.2:g.48436904_48436931del GRCh38
NC_000015.9:g.48729101_48729128del , CM000677.1:g.48729101_48729128del GRCh37
NC_000015.8:g.46516393_46516420del NCBI36
NG_008805.2:g.213859_213886del , LRG_778:g.213859_213886del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6496+31_6496+58del ENSP00000453958.2:n.6496+31_6496+58del
ENST00000674301.2:c.6496+31_6496+58del ENSP00000501333.2:n.6496+31_6496+58del
ENST00000682170.1:n.105+31_105+58del
ENST00000316623.10:c.6496+31_6496+58del MANE Select ENSP00000325527.5:n.6496+31_6496+58del
ENST00000674301.1:c.1495+31_1495+58del ENSP00000501333.1:n.1495+31_1495+58del
ENST00000316623.9:c.6496+31_6496+58del ENSP00000325527.5:n.6496+31_6496+58del
ENST00000537463.6:c.*2259+31_*2259+58del ENSP00000440294.2:n.*2259+31_*2259+58del
ENST00000559133.5:c.1803+31_1803+58del
NM_000138.4:c.6496+31_6496+58del , LRG_778t1:c.6496+31_6496+58del NP_000129.3:n.6496+31_6496+58del
NM_000138.5:c.6496+31_6496+58del MANE Select NP_000129.3:n.6496+31_6496+58del
Search 100 bp 5'
Search 100 bp 3'