Canonical Allele Identifier: CA672604526

Gene: SC5D

Linked Data

• dbSNP Id: rs1454049860
• gnomAD v3: 11-121306824-A-AATT
• gnomAD v4: 11-121306824-A-AATT
• MyVariant Identifiers: chr11:g.121177533_121177534insATT (hg19) ; chr11:g.121306824_121306825insATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306825_121306826insTTA , CM000673.2:g.121306825_121306826insTTA	GRCh38
NC_000011.9:g.121177534_121177535insTTA , CM000673.1:g.121177534_121177535insTTA	GRCh37
NC_000011.8:g.120682744_120682745insTTA	NCBI36
NG_009446.1:g.19147_19148insTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-232_445-231insTTA MANE Select	ENSP00000264027.4:n.445-232_445-231insTTA
ENST00000264027.8:c.445-232_445-231insTTA	ENSP00000264027.4:n.445-232_445-231insTTA
ENST00000392789.2:c.445-232_445-231insTTA	ENSP00000376539.2:n.445-232_445-231insTTA
ENST00000527183.1:n.738-232_738-231insTTA
ENST00000527762.5:c.466-232_466-231insTTA	ENSP00000436290.1:n.466-232_466-231insTTA
ENST00000528991.1:n.138-232_138-231insTTA
ENST00000534230.5:c.445-232_445-231insTTA	ENSP00000432550.1:n.445-232_445-231insTTA
NM_001024956.2:c.445-232_445-231insTTA	NP_001020127.1:n.445-232_445-231insTTA
NM_006918.4:c.445-232_445-231insTTA	NP_008849.2:n.445-232_445-231insTTA
NM_006918.5:c.445-232_445-231insTTA MANE Select	NP_008849.2:n.445-232_445-231insTTA
NM_001024956.3:c.445-232_445-231insTTA	NP_001020127.1:n.445-232_445-231insTTA