Canonical Allele Identifier: CA2598333450

Gene: SERPINA1

Linked Data

• gnomAD v3: 14-94378655-AGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGG-A
• gnomAD v4: 14-94378655-AGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94378656_94378697del , CM000676.2:g.94378656_94378697del	GRCh38
NC_000014.8:g.94844993_94845034del , CM000676.1:g.94844993_94845034del	GRCh37
NC_000014.7:g.93914746_93914787del	NCBI36
NG_008290.1:g.16996_17037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393087.9:c.1066-57_1066-16del MANE Select	ENSP00000376802.4:n.1066-57_1066-16del
ENST00000636712.1:c.1066-57_1066-16del	ENSP00000490054.1:n.1066-57_1066-16del
ENST00000355814.8:c.1066-57_1066-16del	ENSP00000348068.4:n.1066-57_1066-16del
ENST00000393087.8:c.1066-57_1066-16del	ENSP00000376802.4:n.1066-57_1066-16del
ENST00000393088.8:c.1066-57_1066-16del	ENSP00000376803.4:n.1066-57_1066-16del
ENST00000404814.8:c.1066-57_1066-16del	ENSP00000385960.4:n.1066-57_1066-16del
ENST00000437397.5:c.1066-57_1066-16del	ENSP00000408474.1:n.1066-57_1066-16del
ENST00000440909.5:c.1066-57_1066-16del	ENSP00000390299.1:n.1066-57_1066-16del
ENST00000448921.5:c.1066-57_1066-16del	ENSP00000416066.1:n.1066-57_1066-16del
ENST00000449399.7:c.1066-57_1066-16del	ENSP00000416354.3:n.1066-57_1066-16del
ENST00000489769.1:c.*365-57_*365-16del	ENSP00000451525.1:n.*365-57_*365-16del
NM_000295.4:c.1066-57_1066-16del	NP_000286.3:n.1066-57_1066-16del
NM_001002235.2:c.1066-57_1066-16del	NP_001002235.1:n.1066-57_1066-16del
NM_001002236.2:c.1066-57_1066-16del	NP_001002236.1:n.1066-57_1066-16del
NM_001127700.1:c.1066-57_1066-16del	NP_001121172.1:n.1066-57_1066-16del
NM_001127701.1:c.1066-57_1066-16del	NP_001121173.1:n.1066-57_1066-16del
NM_001127702.1:c.1066-57_1066-16del	NP_001121174.1:n.1066-57_1066-16del
NM_001127703.1:c.1066-57_1066-16del	NP_001121175.1:n.1066-57_1066-16del
NM_001127704.1:c.1066-57_1066-16del	NP_001121176.1:n.1066-57_1066-16del
NM_001127705.1:c.1066-57_1066-16del	NP_001121177.1:n.1066-57_1066-16del
NM_001127706.1:c.1066-57_1066-16del	NP_001121178.1:n.1066-57_1066-16del
NM_001127707.1:c.1066-57_1066-16del	NP_001121179.1:n.1066-57_1066-16del
XM_017021370.1:c.1066-57_1066-16del	XP_016876859.1:n.1066-57_1066-16del
NM_000295.5:c.1066-57_1066-16del MANE Select	NP_000286.3:n.1066-57_1066-16del
NM_001002235.3:c.1066-57_1066-16del	NP_001002235.1:n.1066-57_1066-16del
NM_001002236.3:c.1066-57_1066-16del	NP_001002236.1:n.1066-57_1066-16del
NM_001127700.2:c.1066-57_1066-16del	NP_001121172.1:n.1066-57_1066-16del
NM_001127701.2:c.1066-57_1066-16del	NP_001121173.1:n.1066-57_1066-16del
NM_001127702.2:c.1066-57_1066-16del	NP_001121174.1:n.1066-57_1066-16del
NM_001127703.2:c.1066-57_1066-16del	NP_001121175.1:n.1066-57_1066-16del
NM_001127704.2:c.1066-57_1066-16del	NP_001121176.1:n.1066-57_1066-16del
NM_001127705.2:c.1066-57_1066-16del	NP_001121177.1:n.1066-57_1066-16del
NM_001127706.2:c.1066-57_1066-16del	NP_001121178.1:n.1066-57_1066-16del
NM_001127707.2:c.1066-57_1066-16del	NP_001121179.1:n.1066-57_1066-16del