Canonical Allele Identifier: CA1240109649

Gene: EMILIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085142_27085146delinsTCCAC , CM000664.2:g.27085142_27085146delinsTCCAC	GRCh38
NC_000002.11:g.27308010_27308014delinsTCCAC , CM000664.1:g.27308010_27308014delinsTCCAC	GRCh37
NC_000002.10:g.27161514_27161518delinsTCCAC	NCBI36
NG_012199.1:g.3400_3404delinsTCCAC
NG_046849.1:g.11576_11580delinsTCCAC
NG_012199.2:g.3400_3404delinsTCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2576-18_2576-14delinsTCCAC MANE Select	ENSP00000369677.4:n.2576-18_2576-14delinsTCCAC
ENST00000380320.8:c.2576-18_2576-14delinsTCCAC	ENSP00000369677.4:n.2576-18_2576-14delinsTCCAC
ENST00000433140.1:c.568-18_568-14delinsTCCAC
NM_007046.3:c.2576-18_2576-14delinsTCCAC	NP_008977.1:n.2576-18_2576-14delinsTCCAC
XM_006711928.2:c.2575+134_2575+138delinsTCCAC	XP_006711991.1:n.2575+134_2575+138delinsTCCAC
NM_007046.4:c.2576-18_2576-14delinsTCCAC MANE Select	NP_008977.1:n.2576-18_2576-14delinsTCCAC