Canonical Allele Identifier: CA2175526301

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503726_48503727delinsCA , CM000677.2:g.48503726_48503727delinsCA	GRCh38
NC_000015.9:g.48795923_48795924delinsCA , CM000677.1:g.48795923_48795924delinsCA	GRCh37
NC_000015.8:g.46583215_46583216delinsCA	NCBI36
NG_008805.2:g.147062_147063delinsTG , LRG_778:g.147062_147063delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2113+60_2113+61delinsTG	ENSP00000453958.2:n.2113+60_2113+61delinsTG
ENST00000674301.2:c.2113+60_2113+61delinsTG	ENSP00000501333.2:n.2113+60_2113+61delinsTG
ENST00000684448.1:n.787+60_787+61delinsTG
ENST00000316623.10:c.2113+60_2113+61delinsTG MANE Select	ENSP00000325527.5:n.2113+60_2113+61delinsTG
ENST00000316623.9:c.2113+60_2113+61delinsTG	ENSP00000325527.5:n.2113+60_2113+61delinsTG
ENST00000537463.6:c.637-29077_637-29076delinsTG	ENSP00000440294.2:n.637-29077_637-29076delinsTG
NM_000138.4:c.2113+60_2113+61delinsTG , LRG_778t1:c.2113+60_2113+61delinsTG	NP_000129.3:n.2113+60_2113+61delinsTG
NM_000138.5:c.2113+60_2113+61delinsTG MANE Select	NP_000129.3:n.2113+60_2113+61delinsTG