Canonical Allele Identifier: CA2175496745

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434545_48434546delinsTC , CM000677.2:g.48434545_48434546delinsTC	GRCh38
NC_000015.9:g.48726742_48726743delinsTC , CM000677.1:g.48726742_48726743delinsTC	GRCh37
NC_000015.8:g.46514034_46514035delinsTC	NCBI36
NG_008805.2:g.216243_216244delinsGA , LRG_778:g.216243_216244delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+48_6616+49delinsGA	ENSP00000453958.2:n.6616+48_6616+49delinsGA
ENST00000674301.2:c.6616+48_6616+49delinsGA	ENSP00000501333.2:n.6616+48_6616+49delinsGA
ENST00000682170.1:n.225+48_225+49delinsGA
ENST00000316623.10:c.6616+48_6616+49delinsGA MANE Select	ENSP00000325527.5:n.6616+48_6616+49delinsGA
ENST00000674301.1:c.1615+48_1615+49delinsGA	ENSP00000501333.1:n.1615+48_1615+49delinsGA
ENST00000316623.9:c.6616+48_6616+49delinsGA	ENSP00000325527.5:n.6616+48_6616+49delinsGA
ENST00000537463.6:c.*2379+48_*2379+49delinsGA	ENSP00000440294.2:n.*2379+48_*2379+49delinsGA
ENST00000559133.5:c.1923+48_1923+49delinsGA
NM_000138.4:c.6616+48_6616+49delinsGA , LRG_778t1:c.6616+48_6616+49delinsGA	NP_000129.3:n.6616+48_6616+49delinsGA
NM_000138.5:c.6616+48_6616+49delinsGA MANE Select	NP_000129.3:n.6616+48_6616+49delinsGA