Canonical Allele Identifier: CA658653823

Gene: SERPINA1

Linked Data

• ClinVar Variation Id: 444034
• ClinVar RCV Id: RCV000512617
• dbSNP Id: rs1555367896
• MyVariant Identifiers: chr14:g.94844980_94845802del (hg19) ; chr14:g.94378640_94379462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94378643_94379465del , CM000676.2:g.94378643_94379465del	GRCh38
NC_000014.8:g.94844980_94845802del , CM000676.1:g.94844980_94845802del	GRCh37
NC_000014.7:g.93914733_93915555del	NCBI36
NG_008290.1:g.16231_17053del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393087.9:c.1065+2_1066del
ENST00000636712.1:c.1065+2_1066del
ENST00000355814.8:c.1065+2_1066del
ENST00000393087.8:c.1065+2_1066del
ENST00000393088.8:c.1065+2_1066del
ENST00000404814.8:c.1065+2_1066del
ENST00000437397.5:c.1065+2_1066del
ENST00000440909.5:c.1065+2_1066del
ENST00000448921.5:c.1065+2_1066del
ENST00000449399.7:c.1065+2_1066del
ENST00000489769.1:c.*364+2_*365del
NM_000295.4:c.1065+2_1066del
NM_001002235.2:c.1065+2_1066del
NM_001002236.2:c.1065+2_1066del
NM_001127700.1:c.1065+2_1066del
NM_001127701.1:c.1065+2_1066del
NM_001127702.1:c.1065+2_1066del
NM_001127703.1:c.1065+2_1066del
NM_001127704.1:c.1065+2_1066del
NM_001127705.1:c.1065+2_1066del
NM_001127706.1:c.1065+2_1066del
NM_001127707.1:c.1065+2_1066del
XM_017021370.1:c.1065+2_1066del
NM_000295.5:c.1065+2_1066del
NM_001002235.3:c.1065+2_1066del
NM_001002236.3:c.1065+2_1066del
NM_001127700.2:c.1065+2_1066del
NM_001127701.2:c.1065+2_1066del
NM_001127702.2:c.1065+2_1066del
NM_001127703.2:c.1065+2_1066del
NM_001127704.2:c.1065+2_1066del
NM_001127705.2:c.1065+2_1066del
NM_001127706.2:c.1065+2_1066del
NM_001127707.2:c.1065+2_1066del