Canonical Allele Identifier: CA616114856

Gene: SERPINA1

Linked Data

• ClinVar Variation Id: 1460301
• ClinVar RCV Id: RCV001951534
• dbSNP Id: rs1200349975
• gnomAD v2: 14-94847337-AC-A
• MyVariant Identifiers: chr14:g.94847338del (hg19) ; chr14:g.94381001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94381003del , CM000676.2:g.94381003del	GRCh38
NC_000014.8:g.94847340del , CM000676.1:g.94847340del	GRCh37
NC_000014.7:g.93917093del	NCBI36
NG_008290.1:g.14692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393087.9:c.787del MANE Select	ENSP00000376802.4:p.Val263CysfsTer3
ENST00000636712.1:c.787del	ENSP00000490054.1:p.Val263CysfsTer3
ENST00000355814.8:c.787del	ENSP00000348068.4:p.Val263CysfsTer3
ENST00000393087.8:c.787del	ENSP00000376802.4:p.Val263CysfsTer3
ENST00000393088.8:c.787del	ENSP00000376803.4:p.Val263CysfsTer3
ENST00000402629.1:c.787del	ENSP00000386094.1:p.Val263CysfsTer3
ENST00000404814.8:c.787del	ENSP00000385960.4:p.Val263CysfsTer3
ENST00000437397.5:c.787del	ENSP00000408474.1:p.Val263CysfsTer3
ENST00000440909.5:c.787del	ENSP00000390299.1:p.Val263CysfsTer3
ENST00000448921.5:c.787del	ENSP00000416066.1:p.Val263CysfsTer3
ENST00000449399.7:c.787del	ENSP00000416354.3:p.Val263CysfsTer3
ENST00000489769.1:c.787del	ENSP00000451525.1:p.Val263CysfsTer3
NM_000295.4:c.787del	NP_000286.3:p.Val263CysfsTer3
NM_001002235.2:c.787del	NP_001002235.1:p.Val263CysfsTer3
NM_001002236.2:c.787del	NP_001002236.1:p.Val263CysfsTer3
NM_001127700.1:c.787del	NP_001121172.1:p.Val263CysfsTer3
NM_001127701.1:c.787del	NP_001121173.1:p.Val263CysfsTer3
NM_001127702.1:c.787del	NP_001121174.1:p.Val263CysfsTer3
NM_001127703.1:c.787del	NP_001121175.1:p.Val263CysfsTer3
NM_001127704.1:c.787del	NP_001121176.1:p.Val263CysfsTer3
NM_001127705.1:c.787del	NP_001121177.1:p.Val263CysfsTer3
NM_001127706.1:c.787del	NP_001121178.1:p.Val263CysfsTer3
NM_001127707.1:c.787del	NP_001121179.1:p.Val263CysfsTer3
XM_017021370.1:c.787del	XP_016876859.1:p.Val263CysfsTer3
NM_000295.5:c.787del MANE Select	NP_000286.3:p.Val263CysfsTer3
NM_001002235.3:c.787del	NP_001002235.1:p.Val263CysfsTer3
NM_001002236.3:c.787del	NP_001002236.1:p.Val263CysfsTer3
NM_001127700.2:c.787del	NP_001121172.1:p.Val263CysfsTer3
NM_001127701.2:c.787del	NP_001121173.1:p.Val263CysfsTer3
NM_001127702.2:c.787del	NP_001121174.1:p.Val263CysfsTer3
NM_001127703.2:c.787del	NP_001121175.1:p.Val263CysfsTer3
NM_001127704.2:c.787del	NP_001121176.1:p.Val263CysfsTer3
NM_001127705.2:c.787del	NP_001121177.1:p.Val263CysfsTer3
NM_001127706.2:c.787del	NP_001121178.1:p.Val263CysfsTer3
NM_001127707.2:c.787del	NP_001121179.1:p.Val263CysfsTer3