Canonical Allele Identifier: CA16040627

Gene: SERPINA1

Linked Data

• ClinVar Variation Id: 370034
• ClinVar RCV Id: RCV000408906
• dbSNP Id: rs1057516212
• MyVariant Identifiers: chr14:g.94849284_94849287del (hg19) ; chr14:g.94382947_94382950del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94382950_94382953del , CM000676.2:g.94382950_94382953del	GRCh38
NC_000014.8:g.94849287_94849290del , CM000676.1:g.94849287_94849290del	GRCh37
NC_000014.7:g.93919040_93919043del	NCBI36
NG_008290.1:g.12743_12746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393087.9:c.288_291del MANE Select	ENSP00000376802.4:p.His97MetfsTer7
ENST00000636712.1:c.288_291del	ENSP00000490054.1:p.His97MetfsTer7
ENST00000355814.8:c.288_291del	ENSP00000348068.4:p.His97MetfsTer7
ENST00000393087.8:c.288_291del	ENSP00000376802.4:p.His97MetfsTer7
ENST00000393088.8:c.288_291del	ENSP00000376803.4:p.His97MetfsTer7
ENST00000402629.1:c.288_291del	ENSP00000386094.1:p.His97MetfsTer7
ENST00000404814.8:c.288_291del	ENSP00000385960.4:p.His97MetfsTer7
ENST00000437397.5:c.288_291del	ENSP00000408474.1:p.His97MetfsTer7
ENST00000440909.5:c.288_291del	ENSP00000390299.1:p.His97MetfsTer7
ENST00000448921.5:c.288_291del	ENSP00000416066.1:p.His97MetfsTer7
ENST00000449399.7:c.288_291del	ENSP00000416354.3:p.His97MetfsTer7
ENST00000489769.1:c.288_291del	ENSP00000451525.1:p.His97MetfsTer7
ENST00000554720.1:c.30_33del	ENSP00000450561.1:p.His11MetfsTer7
ENST00000556091.1:c.288_291del	ENSP00000452169.1:p.His97MetfsTer7
ENST00000556955.5:c.288_291del	ENSP00000451098.1:p.His97MetfsTer7
ENST00000557492.5:c.288_291del	ENSP00000452452.1:p.His97MetfsTer7
NM_000295.4:c.288_291del	NP_000286.3:p.His97MetfsTer7
NM_001002235.2:c.288_291del	NP_001002235.1:p.His97MetfsTer7
NM_001002236.2:c.288_291del	NP_001002236.1:p.His97MetfsTer7
NM_001127700.1:c.288_291del	NP_001121172.1:p.His97MetfsTer7
NM_001127701.1:c.288_291del	NP_001121173.1:p.His97MetfsTer7
NM_001127702.1:c.288_291del	NP_001121174.1:p.His97MetfsTer7
NM_001127703.1:c.288_291del	NP_001121175.1:p.His97MetfsTer7
NM_001127704.1:c.288_291del	NP_001121176.1:p.His97MetfsTer7
NM_001127705.1:c.288_291del	NP_001121177.1:p.His97MetfsTer7
NM_001127706.1:c.288_291del	NP_001121178.1:p.His97MetfsTer7
NM_001127707.1:c.288_291del	NP_001121179.1:p.His97MetfsTer7
XM_017021370.1:c.288_291del	XP_016876859.1:p.His97MetfsTer7
NM_000295.5:c.288_291del MANE Select	NP_000286.3:p.His97MetfsTer7
NM_001002235.3:c.288_291del	NP_001002235.1:p.His97MetfsTer7
NM_001002236.3:c.288_291del	NP_001002236.1:p.His97MetfsTer7
NM_001127700.2:c.288_291del	NP_001121172.1:p.His97MetfsTer7
NM_001127701.2:c.288_291del	NP_001121173.1:p.His97MetfsTer7
NM_001127702.2:c.288_291del	NP_001121174.1:p.His97MetfsTer7
NM_001127703.2:c.288_291del	NP_001121175.1:p.His97MetfsTer7
NM_001127704.2:c.288_291del	NP_001121176.1:p.His97MetfsTer7
NM_001127705.2:c.288_291del	NP_001121177.1:p.His97MetfsTer7
NM_001127706.2:c.288_291del	NP_001121178.1:p.His97MetfsTer7
NM_001127707.2:c.288_291del	NP_001121179.1:p.His97MetfsTer7