Canonical Allele Identifier: CA1240109552

Gene: EMILIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27084943_27084947delinsTAGTG , CM000664.2:g.27084943_27084947delinsTAGTG	GRCh38
NC_000002.11:g.27307811_27307815delinsTAGTG , CM000664.1:g.27307811_27307815delinsTAGTG	GRCh37
NC_000002.10:g.27161315_27161319delinsTAGTG	NCBI36
NG_012199.1:g.3201_3205delinsTAGTG
NG_046849.1:g.11377_11381delinsTAGTG
NG_012199.2:g.3201_3205delinsTAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2558-48_2558-44delinsTAGTG MANE Select	ENSP00000369677.4:n.2558-48_2558-44delinsTAGTG
ENST00000380320.8:c.2558-48_2558-44delinsTAGTG	ENSP00000369677.4:n.2558-48_2558-44delinsTAGTG
ENST00000433140.1:c.550-48_550-44delinsTAGTG
NM_007046.3:c.2558-48_2558-44delinsTAGTG	NP_008977.1:n.2558-48_2558-44delinsTAGTG
XM_006711928.2:c.2558-48_2558-44delinsTAGTG	XP_006711991.1:n.2558-48_2558-44delinsTAGTG
NM_007046.4:c.2558-48_2558-44delinsTAGTG MANE Select	NP_008977.1:n.2558-48_2558-44delinsTAGTG