Canonical Allele Identifier: CA645372995

Gene: SERPINA1

Linked Data

• PubMed: PMID:2309708 ; PMID:6162902

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.[94382724C>T;94383015_94383017del] , CM000676.2:g.[94382724C>T;94383015_94383017del]	GRCh38
NC_000014.8:g.[94849061C>T;94849352_94849354del] , CM000676.1:g.[94849061C>T;94849352_94849354del]	GRCh37
NC_000014.7:g.[93918814C>T;93919105_93919107del]	NCBI36
NG_008290.1:g.[12682_12684del;12969G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393087.9:c.[227_229del;514G>A] MANE Select	ENSP00000376802.4:p.[Phe76del;Gly172Arg]
ENST00000636712.1:c.[227_229del;514G>A]	ENSP00000490054.1:p.[Phe76del;Gly172Arg]
ENST00000355814.8:c.[227_229del;514G>A]	ENSP00000348068.4:p.[Phe76del;Gly172Arg]
ENST00000393087.8:c.[227_229del;514G>A]	ENSP00000376802.4:p.[Phe76del;Gly172Arg]
ENST00000393088.8:c.[227_229del;514G>A]	ENSP00000376803.4:p.[Phe76del;Gly172Arg]
ENST00000402629.1:c.[227_229del;514G>A]	ENSP00000386094.1:p.[Phe76del;Gly172Arg]
ENST00000404814.8:c.[227_229del;514G>A]	ENSP00000385960.4:p.[Phe76del;Gly172Arg]
ENST00000437397.5:c.[227_229del;514G>A]	ENSP00000408474.1:p.[Phe76del;Gly172Arg]
ENST00000440909.5:c.[227_229del;514G>A]	ENSP00000390299.1:p.[Phe76del;Gly172Arg]
ENST00000448921.5:c.[227_229del;514G>A]	ENSP00000416066.1:p.[Phe76del;Gly172Arg]
ENST00000449399.7:c.[227_229del;514G>A]	ENSP00000416354.3:p.[Phe76del;Gly172Arg]
ENST00000489769.1:c.[227_229del;514G>A]	ENSP00000451525.1:p.[Phe76del;Gly172Arg]
ENST00000554720.1:c.[-23-9_-23-7del;256G>A]	ENSP00000450561.1:p.Gly86Arg
NM_000295.4:c.[227_229del;514G>A]	NP_000286.3:p.[Phe76del;Gly172Arg]
NM_001002235.2:c.[227_229del;514G>A]	NP_001002235.1:p.[Phe76del;Gly172Arg]
NM_001002236.2:c.[227_229del;514G>A]	NP_001002236.1:p.[Phe76del;Gly172Arg]
NM_001127700.1:c.[227_229del;514G>A]	NP_001121172.1:p.[Phe76del;Gly172Arg]
NM_001127701.1:c.[227_229del;514G>A]	NP_001121173.1:p.[Phe76del;Gly172Arg]
NM_001127702.1:c.[227_229del;514G>A]	NP_001121174.1:p.[Phe76del;Gly172Arg]
NM_001127703.1:c.[227_229del;514G>A]	NP_001121175.1:p.[Phe76del;Gly172Arg]
NM_001127704.1:c.[227_229del;514G>A]	NP_001121176.1:p.[Phe76del;Gly172Arg]
NM_001127705.1:c.[227_229del;514G>A]	NP_001121177.1:p.[Phe76del;Gly172Arg]
NM_001127706.1:c.[227_229del;514G>A]	NP_001121178.1:p.[Phe76del;Gly172Arg]
NM_001127707.1:c.[227_229del;514G>A]	NP_001121179.1:p.[Phe76del;Gly172Arg]
XM_017021370.1:c.[227_229del;514G>A]	XP_016876859.1:p.[Phe76del;Gly172Arg]
NM_000295.5:c.[227_229del;514G>A] MANE Select	NP_000286.3:p.[Phe76del;Gly172Arg]
NM_001002235.3:c.[227_229del;514G>A]	NP_001002235.1:p.[Phe76del;Gly172Arg]
NM_001002236.3:c.[227_229del;514G>A]	NP_001002236.1:p.[Phe76del;Gly172Arg]
NM_001127700.2:c.[227_229del;514G>A]	NP_001121172.1:p.[Phe76del;Gly172Arg]
NM_001127701.2:c.[227_229del;514G>A]	NP_001121173.1:p.[Phe76del;Gly172Arg]
NM_001127702.2:c.[227_229del;514G>A]	NP_001121174.1:p.[Phe76del;Gly172Arg]
NM_001127703.2:c.[227_229del;514G>A]	NP_001121175.1:p.[Phe76del;Gly172Arg]
NM_001127704.2:c.[227_229del;514G>A]	NP_001121176.1:p.[Phe76del;Gly172Arg]
NM_001127705.2:c.[227_229del;514G>A]	NP_001121177.1:p.[Phe76del;Gly172Arg]
NM_001127706.2:c.[227_229del;514G>A]	NP_001121178.1:p.[Phe76del;Gly172Arg]
NM_001127707.2:c.[227_229del;514G>A]	NP_001121179.1:p.[Phe76del;Gly172Arg]