Canonical Allele Identifier: CA2695220237
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48436959_48436960dup , CM000677.2:g.48436959_48436960dup GRCh38
NC_000015.9:g.48729156_48729157dup , CM000677.1:g.48729156_48729157dup GRCh37
NC_000015.8:g.46516448_46516449dup NCBI36
NG_008805.2:g.213830_213831dup , LRG_778:g.213830_213831dup

Transcript Alleles

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