Canonical Allele Identifier: CA2793893028

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307376_121307377insCAAAACAACCAAACACACCCAACAC , CM000673.2:g.121307376_121307377insCAAAACAACCAAACACACCCAACAC	GRCh38
NC_000011.9:g.121178085_121178086insCAAAACAACCAAACACACCCAACAC , CM000673.1:g.121178085_121178086insCAAAACAACCAAACACACCCAACAC	GRCh37
NC_000011.8:g.120683295_120683296insCAAAACAACCAAACACACCCAACAC	NCBI36
NG_009446.1:g.19698_19699insCAAAACAACCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.764_765insCAAAACAACCAAACACACCCAACAC MANE Select	ENSP00000264027.4:p.Lys255AsnfsTer15
ENST00000264027.8:c.764_765insCAAAACAACCAAACACACCCAACAC	ENSP00000264027.4:p.Lys255AsnfsTer15
ENST00000392789.2:c.764_765insCAAAACAACCAAACACACCCAACAC	ENSP00000376539.2:p.Lys255AsnfsTer15
ENST00000527183.1:n.1057_1058insCAAAACAACCAAACACACCCAACAC
ENST00000534230.5:c.632-81_632-80insCAAAACAACCAAACACACCCAACAC	ENSP00000432550.1:n.632-81_632-80insCAAAACAACCAAACACACCCAACAC...
NM_001024956.2:c.764_765insCAAAACAACCAAACACACCCAACAC	NP_001020127.1:p.Lys255AsnfsTer15
NM_006918.4:c.764_765insCAAAACAACCAAACACACCCAACAC	NP_008849.2:p.Lys255AsnfsTer15
NM_006918.5:c.764_765insCAAAACAACCAAACACACCCAACAC MANE Select	NP_008849.2:p.Lys255AsnfsTer15
NM_001024956.3:c.764_765insCAAAACAACCAAACACACCCAACAC	NP_001020127.1:p.Lys255AsnfsTer15