Canonical Allele Identifier: CA2175512796

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445057_48445058delinsAT , CM000677.2:g.48445057_48445058delinsAT	GRCh38
NC_000015.9:g.48737254_48737255delinsAT , CM000677.1:g.48737254_48737255delinsAT	GRCh37
NC_000015.8:g.46524546_46524547delinsAT	NCBI36
NG_008805.2:g.205731_205732delinsAT , LRG_778:g.205731_205732delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+318_5917+319delinsAT	ENSP00000453958.2:n.5917+318_5917+319delinsAT
ENST00000674301.2:c.5917+318_5917+319delinsAT	ENSP00000501333.2:n.5917+318_5917+319delinsAT
ENST00000684448.1:n.4591+318_4591+319delinsAT
ENST00000316623.10:c.5917+318_5917+319delinsAT MANE Select	ENSP00000325527.5:n.5917+318_5917+319delinsAT
ENST00000674301.1:c.916+318_916+319delinsAT	ENSP00000501333.1:n.916+318_916+319delinsAT
ENST00000316623.9:c.5917+318_5917+319delinsAT	ENSP00000325527.5:n.5917+318_5917+319delinsAT
ENST00000537463.6:c.*1680+318_*1680+319delinsAT	ENSP00000440294.2:n.*1680+318_*1680+319delinsAT
ENST00000559133.5:c.1224+318_1224+319delinsAT
ENST00000560820.1:n.37+318_37+319delinsAT
NM_000138.4:c.5917+318_5917+319delinsAT , LRG_778t1:c.5917+318_5917+319delinsAT	NP_000129.3:n.5917+318_5917+319delinsAT
NM_000138.5:c.5917+318_5917+319delinsAT MANE Select	NP_000129.3:n.5917+318_5917+319delinsAT