Canonical Allele Identifier: CA5909515

Gene: SAA1

Linked Data

• dbSNP Id: rs751937285
• ExAC: 11:18291240 CCTT / C
• gnomAD v2: 11-18291240-CCTT-C
• gnomAD v4: 11-18269693-CCTT-C
• MyVariant Identifiers: chr11:g.18291241_18291243del (hg19) ; chr11:g.18269694_18269696del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269697_18269699del , CM000673.2:g.18269697_18269699del	GRCh38
NC_000011.9:g.18291244_18291246del , CM000673.1:g.18291244_18291246del	GRCh37
NC_000011.8:g.18247820_18247822del	NCBI36
NG_021330.1:g.8437_8439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*360_*362del	ENSP00000509190.1:n.*360_*362del
ENST00000356524.9:c.231-20_231-18del MANE Select	ENSP00000348918.4:n.231-20_231-18del
ENST00000649195.1:c.*28-20_*28-18del	ENSP00000497498.1:n.*28-20_*28-18del
ENST00000356524.8:c.231-20_231-18del	ENSP00000348918.4:n.231-20_231-18del
ENST00000405158.2:c.231-20_231-18del	ENSP00000384906.2:n.231-20_231-18del
ENST00000532858.5:c.231-20_231-18del	ENSP00000436866.1:n.231-20_231-18del
NM_000331.4:c.231-20_231-18del	NP_000322.2:n.231-20_231-18del
NM_001178006.1:c.231-20_231-18del	NP_001171477.1:n.231-20_231-18del
NM_199161.3:c.231-20_231-18del	NP_954630.1:n.231-20_231-18del
NM_000331.5:c.231-20_231-18del	NP_000322.2:n.231-20_231-18del
NM_001178006.2:c.231-20_231-18del	NP_001171477.1:n.231-20_231-18del
NM_199161.4:c.231-20_231-18del	NP_954630.1:n.231-20_231-18del
NM_199161.5:c.231-20_231-18del MANE Select	NP_954630.2:n.231-20_231-18del
NM_000331.6:c.231-20_231-18del	NP_000322.3:n.231-20_231-18del
NM_001178006.3:c.231-20_231-18del	NP_001171477.2:n.231-20_231-18del