Canonical Allele Identifier: CA935588757

Gene: SAA1

Linked Data

• gnomAD v3: 11-18269514-CAT-C
• gnomAD v4: 11-18269514-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269515_18269516del , CM000673.2:g.18269515_18269516del	GRCh38
NC_000011.9:g.18291062_18291063del , CM000673.1:g.18291062_18291063del	GRCh37
NC_000011.8:g.18247638_18247639del	NCBI36
NG_021330.1:g.8255_8256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*178_*179del	ENSP00000509190.1:n.*178_*179del
ENST00000356524.9:c.230+182_230+183del MANE Select	ENSP00000348918.4:n.230+182_230+183del
ENST00000649195.1:c.*27+151_*27+152del	ENSP00000497498.1:n.*27+151_*27+152del
ENST00000356524.8:c.230+182_230+183del	ENSP00000348918.4:n.230+182_230+183del
ENST00000405158.2:c.230+182_230+183del	ENSP00000384906.2:n.230+182_230+183del
ENST00000532858.5:c.230+182_230+183del	ENSP00000436866.1:n.230+182_230+183del
NM_000331.4:c.230+182_230+183del	NP_000322.2:n.230+182_230+183del
NM_001178006.1:c.230+182_230+183del	NP_001171477.1:n.230+182_230+183del
NM_199161.3:c.230+182_230+183del	NP_954630.1:n.230+182_230+183del
NM_000331.5:c.230+182_230+183del	NP_000322.2:n.230+182_230+183del
NM_001178006.2:c.230+182_230+183del	NP_001171477.1:n.230+182_230+183del
NM_199161.4:c.230+182_230+183del	NP_954630.1:n.230+182_230+183del
NM_199161.5:c.230+182_230+183del MANE Select	NP_954630.2:n.230+182_230+183del
NM_000331.6:c.230+182_230+183del	NP_000322.3:n.230+182_230+183del
NM_001178006.3:c.230+182_230+183del	NP_001171477.2:n.230+182_230+183del