Canonical Allele Identifier: CA1568978

Gene: EMILIN1

Linked Data

• dbSNP Id: rs781326446
• ExAC: 2:27308010 TCCAC / T
• gnomAD v2: 2-27308010-TCCAC-T
• gnomAD v4: 2-27085142-TCCAC-T
• MyVariant Identifiers: chr2:g.27308011_27308014del (hg19) ; chr2:g.27085143_27085146del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085145_27085148del , CM000664.2:g.27085145_27085148del	GRCh38
NC_000002.11:g.27308013_27308016del , CM000664.1:g.27308013_27308016del	GRCh37
NC_000002.10:g.27161517_27161520del	NCBI36
NG_012199.1:g.3403_3406del
NG_046849.1:g.11579_11582del
NG_012199.2:g.3403_3406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2576-15_2576-12del MANE Select	ENSP00000369677.4:n.2576-15_2576-12del
ENST00000380320.8:c.2576-15_2576-12del	ENSP00000369677.4:n.2576-15_2576-12del
ENST00000433140.1:c.568-15_568-12del
NM_007046.3:c.2576-15_2576-12del	NP_008977.1:n.2576-15_2576-12del
XM_006711928.2:c.2575+137_2575+140del	XP_006711991.1:n.2575+137_2575+140del
NM_007046.4:c.2576-15_2576-12del MANE Select	NP_008977.1:n.2576-15_2576-12del