Canonical Allele Identifier: CA2793893029

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307377_121307378insCACACCCAACAC , CM000673.2:g.121307377_121307378insCACACCCAACAC	GRCh38
NC_000011.9:g.121178086_121178087insCACACCCAACAC , CM000673.1:g.121178086_121178087insCACACCCAACAC	GRCh37
NC_000011.8:g.120683296_120683297insCACACCCAACAC	NCBI36
NG_009446.1:g.19699_19700insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.765_766insCACACCCAACAC MANE Select	ENSP00000264027.4:p.Lys255_Asn256insHisThrGlnHis
ENST00000264027.8:c.765_766insCACACCCAACAC	ENSP00000264027.4:p.Lys255_Asn256insHisThrGlnHis
ENST00000392789.2:c.765_766insCACACCCAACAC	ENSP00000376539.2:p.Lys255_Asn256insHisThrGlnHis
ENST00000527183.1:n.1058_1059insCACACCCAACAC
ENST00000534230.5:c.632-80_632-79insCACACCCAACAC	ENSP00000432550.1:n.632-80_632-79insCACACCCAACAC
NM_001024956.2:c.765_766insCACACCCAACAC	NP_001020127.1:p.Lys255_Asn256insHisThrGlnHis
NM_006918.4:c.765_766insCACACCCAACAC	NP_008849.2:p.Lys255_Asn256insHisThrGlnHis
NM_006918.5:c.765_766insCACACCCAACAC MANE Select	NP_008849.2:p.Lys255_Asn256insHisThrGlnHis
NM_001024956.3:c.765_766insCACACCCAACAC	NP_001020127.1:p.Lys255_Asn256insHisThrGlnHis