Canonical Allele Identifier: CA1240109683

Gene: EMILIN1

Linked Data

• dbSNP Id: rs1669582391

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085221del , CM000664.2:g.27085221del	GRCh38
NC_000002.11:g.27308089del , CM000664.1:g.27308089del	GRCh37
NC_000002.10:g.27161593del	NCBI36
NG_012199.1:g.3479del
NG_046849.1:g.11655del
NG_012199.2:g.3479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2637del MANE Select	ENSP00000369677.4:p.Leu879PhefsTer?
ENST00000380320.8:c.2637del	ENSP00000369677.4:p.Leu879PhefsTer?
ENST00000433140.1:c.629del
NM_007046.3:c.2637del	NP_008977.1:p.Leu879PhefsTer?
XM_006711928.2:c.2575+213del	XP_006711991.1:n.2575+213del
NM_007046.4:c.2637del MANE Select	NP_008977.1:p.Leu879PhefsTer?