Canonical Allele Identifier: CA1240109701

Gene: EMILIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085254_27085256delinsCAG , CM000664.2:g.27085254_27085256delinsCAG	GRCh38
NC_000002.11:g.27308122_27308124delinsCAG , CM000664.1:g.27308122_27308124delinsCAG	GRCh37
NC_000002.10:g.27161626_27161628delinsCAG	NCBI36
NG_012199.1:g.3512_3514delinsCAG
NG_046849.1:g.11688_11690delinsCAG
NG_012199.2:g.3512_3514delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2670_2672delinsCAG MANE Select	ENSP00000369677.4:p.Asp890=
ENST00000380320.8:c.2670_2672delinsCAG	ENSP00000369677.4:p.Asp890=
ENST00000433140.1:c.662_664delinsCAG
NM_007046.3:c.2670_2672delinsCAG	NP_008977.1:p.Asp890=
XM_006711928.2:c.2575+246_2575+248delinsCAG	XP_006711991.1:n.2575+246_2575+248delinsCAG
NM_007046.4:c.2670_2672delinsCAG MANE Select	NP_008977.1:p.Asp890=