Canonical Allele Identifier: CA2793893027

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307308_121307309insACACCCAACA , CM000673.2:g.121307308_121307309insACACCCAACA	GRCh38
NC_000011.9:g.121178017_121178018insACACCCAACA , CM000673.1:g.121178017_121178018insACACCCAACA	GRCh37
NC_000011.8:g.120683227_120683228insACACCCAACA	NCBI36
NG_009446.1:g.19630_19631insACACCCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.696_697insACACCCAACA MANE Select	ENSP00000264027.4:p.His233ThrfsTer8
ENST00000264027.8:c.696_697insACACCCAACA	ENSP00000264027.4:p.His233ThrfsTer8
ENST00000392789.2:c.696_697insACACCCAACA	ENSP00000376539.2:p.His233ThrfsTer8
ENST00000527183.1:n.989_990insACACCCAACA
ENST00000534230.5:c.631+65_631+66insACACCCAACA	ENSP00000432550.1:n.631+65_631+66insACACCCAACA
NM_001024956.2:c.696_697insACACCCAACA	NP_001020127.1:p.His233ThrfsTer8
NM_006918.4:c.696_697insACACCCAACA	NP_008849.2:p.His233ThrfsTer8
NM_006918.5:c.696_697insACACCCAACA MANE Select	NP_008849.2:p.His233ThrfsTer8
NM_001024956.3:c.696_697insACACCCAACA	NP_001020127.1:p.His233ThrfsTer8