Canonical Allele Identifier: CA2519675234
Gene: SERPINA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94390263_94390271dup , CM000676.2:g.94390263_94390271dup GRCh38
NC_000014.8:g.94856600_94856608dup , CM000676.1:g.94856600_94856608dup GRCh37
NC_000014.7:g.93926353_93926361dup NCBI36
NG_008290.1:g.5423_5431dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355814.8:c.-5+150_-5+158dup ENSP00000348068.4:n.-5+150_-5+158dup
ENST00000393088.8:c.-319+187_-319+195dup ENSP00000376803.4:n.-319+187_-319+195dup
ENST00000404814.8:c.-106+187_-106+195dup ENSP00000385960.4:n.-106+187_-106+195dup
ENST00000437397.5:c.-109+150_-109+158dup ENSP00000408474.1:n.-109+150_-109+158dup
ENST00000440909.5:c.-5+187_-5+195dup ENSP00000390299.1:n.-5+187_-5+195dup
ENST00000448921.5:c.-301+150_-301+158dup ENSP00000416066.1:n.-301+150_-301+158dup
ENST00000449399.7:c.-109+187_-109+195dup ENSP00000416354.3:n.-109+187_-109+195dup
ENST00000553327.5:c.-109+150_-109+158dup ENSP00000452480.1:n.-109+150_-109+158dup
ENST00000555289.5:n.179+187_179+195dup
ENST00000556955.5:c.-5+150_-5+158dup ENSP00000451098.1:n.-5+150_-5+158dup
ENST00000557093.1:n.179+187_179+195dup
ENST00000557118.5:c.-301+150_-301+158dup ENSP00000451826.1:n.-301+150_-301+158dup
ENST00000557361.5:n.179+187_179+195dup
ENST00000557492.5:c.-298+187_-298+195dup ENSP00000452452.1:n.-298+187_-298+195dup
NM_001002235.2:c.-5+187_-5+195dup NP_001002235.1:n.-5+187_-5+195dup
NM_001002236.2:c.-319+187_-319+195dup NP_001002236.1:n.-319+187_-319+195dup
NM_001127700.1:c.-5+150_-5+158dup NP_001121172.1:n.-5+150_-5+158dup
NM_001127701.1:c.-301+150_-301+158dup NP_001121173.1:n.-301+150_-301+158dup
NM_001127702.1:c.-109+150_-109+158dup NP_001121174.1:n.-109+150_-109+158dup
NM_001127703.1:c.-301+187_-301+195dup NP_001121175.1:n.-301+187_-301+195dup
NM_001127704.1:c.-298+187_-298+195dup NP_001121176.1:n.-298+187_-298+195dup
NM_001127705.1:c.-316+187_-316+195dup NP_001121177.1:n.-316+187_-316+195dup
NM_001127706.1:c.-109+187_-109+195dup NP_001121178.1:n.-109+187_-109+195dup
NM_001127707.1:c.-106+187_-106+195dup NP_001121179.1:n.-106+187_-106+195dup
XM_017021370.1:c.-244+187_-244+195dup XP_016876859.1:n.-244+187_-244+195dup
NM_001002235.3:c.-5+187_-5+195dup NP_001002235.1:n.-5+187_-5+195dup
NM_001002236.3:c.-319+187_-319+195dup NP_001002236.1:n.-319+187_-319+195dup
NM_001127700.2:c.-5+150_-5+158dup NP_001121172.1:n.-5+150_-5+158dup
NM_001127701.2:c.-301+150_-301+158dup NP_001121173.1:n.-301+150_-301+158dup
NM_001127702.2:c.-109+150_-109+158dup NP_001121174.1:n.-109+150_-109+158dup
NM_001127703.2:c.-301+187_-301+195dup NP_001121175.1:n.-301+187_-301+195dup
NM_001127704.2:c.-298+187_-298+195dup NP_001121176.1:n.-298+187_-298+195dup
NM_001127705.2:c.-316+187_-316+195dup NP_001121177.1:n.-316+187_-316+195dup
NM_001127706.2:c.-109+187_-109+195dup NP_001121178.1:n.-109+187_-109+195dup
NM_001127707.2:c.-106+187_-106+195dup NP_001121179.1:n.-106+187_-106+195dup