Canonical Allele Identifier: CA2658283517

Gene: EMILIN1

Linked Data

• gnomAD v4: 2-27085127-GCATCCCCTTTAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085133_27085144del , CM000664.2:g.27085133_27085144del	GRCh38
NC_000002.11:g.27308001_27308012del , CM000664.1:g.27308001_27308012del	GRCh37
NC_000002.10:g.27161505_27161516del	NCBI36
NG_012199.1:g.3391_3402del
NG_046849.1:g.11567_11578del
NG_012199.2:g.3391_3402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2576-27_2576-16del MANE Select	ENSP00000369677.4:n.2576-27_2576-16del
ENST00000380320.8:c.2576-27_2576-16del	ENSP00000369677.4:n.2576-27_2576-16del
ENST00000433140.1:c.568-27_568-16del
NM_007046.3:c.2576-27_2576-16del	NP_008977.1:n.2576-27_2576-16del
XM_006711928.2:c.2575+125_2575+136del	XP_006711991.1:n.2575+125_2575+136del
NM_007046.4:c.2576-27_2576-16del MANE Select	NP_008977.1:n.2576-27_2576-16del