Canonical Allele Identifier: CA2658283613

Gene: EMILIN1

Linked Data

• gnomAD v4: 2-27085213-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085214dup , CM000664.2:g.27085214dup	GRCh38
NC_000002.11:g.27308082dup , CM000664.1:g.27308082dup	GRCh37
NC_000002.10:g.27161586dup	NCBI36
NG_012199.1:g.3472dup
NG_046849.1:g.11648dup
NG_012199.2:g.3472dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2630dup MANE Select	ENSP00000369677.4:p.Ser878GlufsTer6
ENST00000380320.8:c.2630dup	ENSP00000369677.4:p.Ser878GlufsTer6
ENST00000433140.1:c.622dup
NM_007046.3:c.2630dup	NP_008977.1:p.Ser878GlufsTer6
XM_006711928.2:c.2575+206dup	XP_006711991.1:n.2575+206dup
NM_007046.4:c.2630dup MANE Select	NP_008977.1:p.Ser878GlufsTer6