Canonical Allele Identifier: CA2175495683
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474439_48474444delinsCAAATT , CM000677.2:g.48474439_48474444delinsCAAATT GRCh38
NC_000015.9:g.48766636_48766641delinsCAAATT , CM000677.1:g.48766636_48766641delinsCAAATT GRCh37
NC_000015.8:g.46553928_46553933delinsCAAATT NCBI36
NG_008805.2:g.176345_176350delinsAATTTG , LRG_778:g.176345_176350delinsAATTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4088-67_4088-62delinsAATTTG ENSP00000453958.2:n.4088-67_4088-62delinsAATTTG
ENST00000674301.2:c.4088-67_4088-62delinsAATTTG ENSP00000501333.2:n.4088-67_4088-62delinsAATTTG
ENST00000684448.1:n.2762-67_2762-62delinsAATTTG
ENST00000316623.10:c.4088-67_4088-62delinsAATTTG MANE Select ENSP00000325527.5:n.4088-67_4088-62delinsAATTTG
ENST00000316623.9:c.4088-67_4088-62delinsAATTTG ENSP00000325527.5:n.4088-67_4088-62delinsAATTTG
ENST00000537463.6:c.760-67_760-62delinsAATTTG ENSP00000440294.2:n.760-67_760-62delinsAATTTG
NM_000138.4:c.4088-67_4088-62delinsAATTTG , LRG_778t1:c.4088-67_4088-62delinsAATTTG NP_000129.3:n.4088-67_4088-62delinsAATTTG
NM_000138.5:c.4088-67_4088-62delinsAATTTG MANE Select NP_000129.3:n.4088-67_4088-62delinsAATTTG
Search 100 bp 5'
Search 100 bp 3'