Canonical Allele Identifier: CA161498638

Gene: SEMA3C

Linked Data

• dbSNP Id: rs1003641838
• gnomAD v2: 7-80532251-TAAG-T
• gnomAD v3: 7-80902935-TAAG-T
• gnomAD v4: 7-80902935-TAAG-T
• MyVariant Identifiers: chr7:g.80532252_80532254del (hg19) ; chr7:g.80902936_80902938del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.80902941_80902943del , CM000669.2:g.80902941_80902943del	GRCh38
NC_000007.13:g.80532257_80532259del , CM000669.1:g.80532257_80532259del	GRCh37
NC_000007.12:g.80370193_80370195del	NCBI36
NG_054744.1:g.24442_24444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265361.8:c.103+13741_103+13743del MANE Select	ENSP00000265361.3:n.103+13741_103+13743del
ENST00000265361.7:c.103+13741_103+13743del	ENSP00000265361.3:n.103+13741_103+13743del
ENST00000411788.5:c.191+2891_191+2893del	ENSP00000395398.1:n.191+2891_191+2893del
ENST00000419255.6:c.103+13741_103+13743del	ENSP00000411193.2:n.103+13741_103+13743del
ENST00000427167.5:c.191+2891_191+2893del	ENSP00000399891.1:n.191+2891_191+2893del
ENST00000458729.5:c.103+13741_103+13743del	ENSP00000393825.1:n.103+13741_103+13743del
ENST00000487621.5:n.496+13741_496+13743del
NM_006379.3:c.103+13741_103+13743del	NP_006370.1:n.103+13741_103+13743del
XM_005250113.1:c.-72+2891_-72+2893del	XP_005250170.1:n.-72+2891_-72+2893del
NM_001350120.1:c.157+13741_157+13743del	NP_001337049.1:n.157+13741_157+13743del
NM_001350121.1:c.-72+2891_-72+2893del	NP_001337050.1:n.-72+2891_-72+2893del
NM_006379.4:c.103+13741_103+13743del	NP_006370.1:n.103+13741_103+13743del
NM_006379.5:c.103+13741_103+13743del MANE Select	NP_006370.1:n.103+13741_103+13743del
NM_001350120.2:c.157+13741_157+13743del	NP_001337049.1:n.157+13741_157+13743del
NM_001350121.2:c.-72+2891_-72+2893del	NP_001337050.1:n.-72+2891_-72+2893del