Canonical Allele Identifier: CA2628336020
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48508780del , CM000677.2:g.48508780del GRCh38
NC_000015.9:g.48800977del , CM000677.1:g.48800977del GRCh37
NC_000015.8:g.46588269del NCBI36
NG_008805.2:g.142010del , LRG_778:g.142010del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1715-75del ENSP00000453958.2:n.1715-75del
ENST00000674301.2:c.1715-75del ENSP00000501333.2:n.1715-75del
ENST00000684448.1:n.389-75del
ENST00000316623.10:c.1715-75del MANE Select ENSP00000325527.5:n.1715-75del
ENST00000316623.9:c.1715-75del ENSP00000325527.5:n.1715-75del
ENST00000537463.6:c.636+28932del ENSP00000440294.2:n.636+28932del
NM_000138.4:c.1715-75del , LRG_778t1:c.1715-75del NP_000129.3:n.1715-75del
NM_000138.5:c.1715-75del MANE Select NP_000129.3:n.1715-75del