Canonical Allele Identifier: CA597451559

Gene: SAA1

Linked Data

• dbSNP Id: rs1381662801
• gnomAD v2: 11-18291498-ATACT-A
• gnomAD v3: 11-18269951-ATACT-A
• gnomAD v4: 11-18269951-ATACT-A
• MyVariant Identifiers: chr11:g.18291499_18291502del (hg19) ; chr11:g.18269952_18269955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269954_18269957del , CM000673.2:g.18269954_18269957del	GRCh38
NC_000011.9:g.18291501_18291504del , CM000673.1:g.18291501_18291504del	GRCh37
NC_000011.8:g.18248077_18248080del	NCBI36
NG_021330.1:g.8694_8697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*617_*620del	ENSP00000509190.1:n.*617_*620del
ENST00000356524.9:c.*99_*102del MANE Select	ENSP00000348918.4:n.*99_*102del
ENST00000649195.1:c.*265_*268del	ENSP00000497498.1:n.*265_*268del
ENST00000356524.8:c.*99_*102del	ENSP00000348918.4:n.*99_*102del
ENST00000405158.2:c.*99_*102del	ENSP00000384906.2:n.*99_*102del
ENST00000532858.5:c.*99_*102del	ENSP00000436866.1:n.*99_*102del
NM_000331.4:c.*99_*102del	NP_000322.2:n.*99_*102del
NM_001178006.1:c.*99_*102del	NP_001171477.1:n.*99_*102del
NM_199161.3:c.*99_*102del	NP_954630.1:n.*99_*102del
NM_000331.5:c.*99_*102del	NP_000322.2:n.*99_*102del
NM_001178006.2:c.*99_*102del	NP_001171477.1:n.*99_*102del
NM_199161.4:c.*99_*102del	NP_954630.1:n.*99_*102del
NM_199161.5:c.*99_*102del MANE Select	NP_954630.2:n.*99_*102del
NM_000331.6:c.*99_*102del	NP_000322.3:n.*99_*102del
NM_001178006.3:c.*99_*102del	NP_001171477.2:n.*99_*102del