Canonical Allele Identifier: CA2004810378

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306836_121306843delinsCACCACTG , CM000673.2:g.121306836_121306843delinsCACCACTG	GRCh38
NC_000011.9:g.121177545_121177552delinsCACCACTG , CM000673.1:g.121177545_121177552delinsCACCACTG	GRCh37
NC_000011.8:g.120682755_120682762delinsCACCACTG	NCBI36
NG_009446.1:g.19158_19165delinsCACCACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-221_445-214delinsCACCACTG MANE Select	ENSP00000264027.4:n.445-221_445-214delinsCACCACTG
ENST00000264027.8:c.445-221_445-214delinsCACCACTG	ENSP00000264027.4:n.445-221_445-214delinsCACCACTG
ENST00000392789.2:c.445-221_445-214delinsCACCACTG	ENSP00000376539.2:n.445-221_445-214delinsCACCACTG
ENST00000527183.1:n.738-221_738-214delinsCACCACTG
ENST00000527762.5:c.466-221_466-214delinsCACCACTG	ENSP00000436290.1:n.466-221_466-214delinsCACCACTG
ENST00000528991.1:n.138-221_138-214delinsCACCACTG
ENST00000534230.5:c.445-221_445-214delinsCACCACTG	ENSP00000432550.1:n.445-221_445-214delinsCACCACTG
NM_001024956.2:c.445-221_445-214delinsCACCACTG	NP_001020127.1:n.445-221_445-214delinsCACCACTG
NM_006918.4:c.445-221_445-214delinsCACCACTG	NP_008849.2:n.445-221_445-214delinsCACCACTG
NM_006918.5:c.445-221_445-214delinsCACCACTG MANE Select	NP_008849.2:n.445-221_445-214delinsCACCACTG
NM_001024956.3:c.445-221_445-214delinsCACCACTG	NP_001020127.1:n.445-221_445-214delinsCACCACTG