Canonical Allele Identifier: CA767344044

Gene: EMILIN1

Linked Data

• dbSNP Id: rs1259754159
• MyVariant Identifiers: chr2:g.27308171del (hg19) ; chr2:g.27085303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085304del , CM000664.2:g.27085304del	GRCh38
NC_000002.11:g.27308172del , CM000664.1:g.27308172del	GRCh37
NC_000002.10:g.27161676del	NCBI36
NG_012199.1:g.3562del
NG_046849.1:g.11738del
NG_012199.2:g.3562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2713+7del MANE Select	ENSP00000369677.4:n.2713+7del
ENST00000380320.8:c.2713+7del	ENSP00000369677.4:n.2713+7del
ENST00000433140.1:c.705+7del
NM_007046.3:c.2713+7del	NP_008977.1:n.2713+7del
XM_006711928.2:c.2575+296del	XP_006711991.1:n.2575+296del
NM_007046.4:c.2713+7del MANE Select	NP_008977.1:n.2713+7del