Canonical Allele Identifier: CA2612727235

Gene: SAA1

Linked Data

• gnomAD v4: 11-18269356-TAGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269357_18269360del , CM000673.2:g.18269357_18269360del	GRCh38
NC_000011.9:g.18290904_18290907del , CM000673.1:g.18290904_18290907del	GRCh37
NC_000011.8:g.18247480_18247483del	NCBI36
NG_021330.1:g.8097_8100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*20_*23del	ENSP00000509190.1:n.*20_*23del
ENST00000356524.9:c.230+24_230+27del MANE Select	ENSP00000348918.4:n.230+24_230+27del
ENST00000649195.1:c.*20_*23del	ENSP00000497498.1:n.*20_*23del
ENST00000356524.8:c.230+24_230+27del	ENSP00000348918.4:n.230+24_230+27del
ENST00000405158.2:c.230+24_230+27del	ENSP00000384906.2:n.230+24_230+27del
ENST00000532858.5:c.230+24_230+27del	ENSP00000436866.1:n.230+24_230+27del
NM_000331.4:c.230+24_230+27del	NP_000322.2:n.230+24_230+27del
NM_001178006.1:c.230+24_230+27del	NP_001171477.1:n.230+24_230+27del
NM_199161.3:c.230+24_230+27del	NP_954630.1:n.230+24_230+27del
NM_000331.5:c.230+24_230+27del	NP_000322.2:n.230+24_230+27del
NM_001178006.2:c.230+24_230+27del	NP_001171477.1:n.230+24_230+27del
NM_199161.4:c.230+24_230+27del	NP_954630.1:n.230+24_230+27del
NM_199161.5:c.230+24_230+27del MANE Select	NP_954630.2:n.230+24_230+27del
NM_000331.6:c.230+24_230+27del	NP_000322.3:n.230+24_230+27del
NM_001178006.3:c.230+24_230+27del	NP_001171477.2:n.230+24_230+27del