Canonical Allele Identifier: CA966136731

Gene: SERPINA1

Linked Data

• dbSNP Id: rs1897607279
• gnomAD v3: 14-94390259-AAT-A
• gnomAD v4: 14-94390259-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94390260_94390261del , CM000676.2:g.94390260_94390261del	GRCh38
NC_000014.8:g.94856597_94856598del , CM000676.1:g.94856597_94856598del	GRCh37
NC_000014.7:g.93926350_93926351del	NCBI36
NG_008290.1:g.5432_5433del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355814.8:c.-5+159_-5+160del	ENSP00000348068.4:n.-5+159_-5+160del
ENST00000393088.8:c.-319+196_-319+197del	ENSP00000376803.4:n.-319+196_-319+197del
ENST00000404814.8:c.-106+196_-106+197del	ENSP00000385960.4:n.-106+196_-106+197del
ENST00000437397.5:c.-109+159_-109+160del	ENSP00000408474.1:n.-109+159_-109+160del
ENST00000440909.5:c.-5+196_-5+197del	ENSP00000390299.1:n.-5+196_-5+197del
ENST00000448921.5:c.-301+159_-301+160del	ENSP00000416066.1:n.-301+159_-301+160del
ENST00000449399.7:c.-109+196_-109+197del	ENSP00000416354.3:n.-109+196_-109+197del
ENST00000553327.5:c.-109+159_-109+160del	ENSP00000452480.1:n.-109+159_-109+160del
ENST00000555289.5:n.179+196_179+197del
ENST00000556955.5:c.-5+159_-5+160del	ENSP00000451098.1:n.-5+159_-5+160del
ENST00000557093.1:n.179+196_179+197del
ENST00000557118.5:c.-301+159_-301+160del	ENSP00000451826.1:n.-301+159_-301+160del
ENST00000557361.5:n.179+196_179+197del
ENST00000557492.5:c.-298+196_-298+197del	ENSP00000452452.1:n.-298+196_-298+197del
NM_001002235.2:c.-5+196_-5+197del	NP_001002235.1:n.-5+196_-5+197del
NM_001002236.2:c.-319+196_-319+197del	NP_001002236.1:n.-319+196_-319+197del
NM_001127700.1:c.-5+159_-5+160del	NP_001121172.1:n.-5+159_-5+160del
NM_001127701.1:c.-301+159_-301+160del	NP_001121173.1:n.-301+159_-301+160del
NM_001127702.1:c.-109+159_-109+160del	NP_001121174.1:n.-109+159_-109+160del
NM_001127703.1:c.-301+196_-301+197del	NP_001121175.1:n.-301+196_-301+197del
NM_001127704.1:c.-298+196_-298+197del	NP_001121176.1:n.-298+196_-298+197del
NM_001127705.1:c.-316+196_-316+197del	NP_001121177.1:n.-316+196_-316+197del
NM_001127706.1:c.-109+196_-109+197del	NP_001121178.1:n.-109+196_-109+197del
NM_001127707.1:c.-106+196_-106+197del	NP_001121179.1:n.-106+196_-106+197del
XM_017021370.1:c.-244+196_-244+197del	XP_016876859.1:n.-244+196_-244+197del
NM_001002235.3:c.-5+196_-5+197del	NP_001002235.1:n.-5+196_-5+197del
NM_001002236.3:c.-319+196_-319+197del	NP_001002236.1:n.-319+196_-319+197del
NM_001127700.2:c.-5+159_-5+160del	NP_001121172.1:n.-5+159_-5+160del
NM_001127701.2:c.-301+159_-301+160del	NP_001121173.1:n.-301+159_-301+160del
NM_001127702.2:c.-109+159_-109+160del	NP_001121174.1:n.-109+159_-109+160del
NM_001127703.2:c.-301+196_-301+197del	NP_001121175.1:n.-301+196_-301+197del
NM_001127704.2:c.-298+196_-298+197del	NP_001121176.1:n.-298+196_-298+197del
NM_001127705.2:c.-316+196_-316+197del	NP_001121177.1:n.-316+196_-316+197del
NM_001127706.2:c.-109+196_-109+197del	NP_001121178.1:n.-109+196_-109+197del
NM_001127707.2:c.-106+196_-106+197del	NP_001121179.1:n.-106+196_-106+197del