Canonical Allele Identifier: CA2175520424

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472510_48472515delinsTCAAGC , CM000677.2:g.48472510_48472515delinsTCAAGC	GRCh38
NC_000015.9:g.48764707_48764712delinsTCAAGC , CM000677.1:g.48764707_48764712delinsTCAAGC	GRCh37
NC_000015.8:g.46551999_46552004delinsTCAAGC	NCBI36
NG_008805.2:g.178274_178279delinsGCTTGA , LRG_778:g.178274_178279delinsGCTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+36_4336+41delinsGCTTGA	ENSP00000453958.2:n.4336+36_4336+41delinsGCTTGA
ENST00000674301.2:c.4336+36_4336+41delinsGCTTGA	ENSP00000501333.2:n.4336+36_4336+41delinsGCTTGA
ENST00000683268.1:n.303+36_303+41delinsGCTTGA
ENST00000684448.1:n.3010+36_3010+41delinsGCTTGA
ENST00000316623.10:c.4336+36_4336+41delinsGCTTGA MANE Select	ENSP00000325527.5:n.4336+36_4336+41delinsGCTTGA
ENST00000316623.9:c.4336+36_4336+41delinsGCTTGA	ENSP00000325527.5:n.4336+36_4336+41delinsGCTTGA
ENST00000537463.6:c.*99+36_*99+41delinsGCTTGA	ENSP00000440294.2:n.*99+36_*99+41delinsGCTTGA
NM_000138.4:c.4336+36_4336+41delinsGCTTGA , LRG_778t1:c.4336+36_4336+41delinsGCTTGA	NP_000129.3:n.4336+36_4336+41delinsGCTTGA
NM_000138.5:c.4336+36_4336+41delinsGCTTGA MANE Select	NP_000129.3:n.4336+36_4336+41delinsGCTTGA