Canonical Allele Identifier: CA576046023

Gene: SEMA3D

Linked Data

• dbSNP Id: rs1486517196
• gnomAD v2: 7-84725427-A-AAAT
• gnomAD v3: 7-85096111-A-AAAT
• gnomAD v4: 7-85096111-A-AAAT
• MyVariant Identifiers: chr7:g.84725427_84725428insAAT (hg19) ; chr7:g.85096111_85096112insAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.85096111_85096112insAAT , CM000669.2:g.85096111_85096112insAAT	GRCh38
NC_000007.13:g.84725427_84725428insAAT , CM000669.1:g.84725427_84725428insAAT	GRCh37
NC_000007.12:g.84563363_84563364insAAT	NCBI36
NG_051329.1:g.95744_95745insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284136.11:c.312+1693_312+1694insATT MANE Select	ENSP00000284136.6:n.312+1693_312+1694insATT
ENST00000284136.10:c.312+1693_312+1694insATT	ENSP00000284136.6:n.312+1693_312+1694insATT
ENST00000444867.1:c.312+1693_312+1694insATT	ENSP00000401366.1:n.312+1693_312+1694insATT
NM_152754.2:c.312+1693_312+1694insATT	NP_689967.2:n.312+1693_312+1694insATT
XM_011515960.1:c.312+1693_312+1694insATT	XP_011514262.1:n.312+1693_312+1694insATT
XM_011515961.1:c.-271+1693_-271+1694insATT	XP_011514263.1:n.-271+1693_-271+1694insATT
XM_011515961.2:c.-271+1693_-271+1694insATT	XP_011514263.1:n.-271+1693_-271+1694insATT
XM_017011873.1:c.312+1693_312+1694insATT	XP_016867362.1:n.312+1693_312+1694insATT
NM_001384900.1:c.312+1693_312+1694insATT MANE Select	NP_001371829.1:n.312+1693_312+1694insATT
NM_001384901.1:c.312+1693_312+1694insATT	NP_001371830.1:n.312+1693_312+1694insATT
NM_001384902.1:c.312+1693_312+1694insATT	NP_001371831.1:n.312+1693_312+1694insATT
NM_001384903.1:c.312+1693_312+1694insATT	NP_001371832.1:n.312+1693_312+1694insATT
NM_152754.3:c.312+1693_312+1694insATT	NP_689967.2:n.312+1693_312+1694insATT