Canonical Allele Identifier: CA2694943

Gene: SERPINI1

Linked Data

• dbSNP Id: rs772787255
• ExAC: 3:167540727 TC / T
• gnomAD v2: 3-167540727-TC-T
• gnomAD v4: 3-167822939-TC-T
• MyVariant Identifiers: chr3:g.167540728del (hg19) ; chr3:g.167822940del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.167822941del , CM000665.2:g.167822941del	GRCh38
NC_000003.11:g.167540729del , CM000665.1:g.167540729del	GRCh37
NC_000003.10:g.169023423del	NCBI36
NG_008217.1:g.92298del

Transcript Alleles

HGVS	Amino-acid change
ENST00000446050.7:c.980-45del MANE Select	ENSP00000397373.2:n.980-45del
ENST00000295777.9:c.980-45del	ENSP00000295777.5:n.980-45del
ENST00000446050.6:c.980-45del	ENSP00000397373.2:n.980-45del
ENST00000466865.1:c.105-45del
ENST00000488374.5:n.176-45del
ENST00000494666.1:n.6del
NM_001122752.1:c.980-45del	NP_001116224.1:n.980-45del
NM_005025.4:c.980-45del	NP_005016.1:n.980-45del
XM_017006618.2:c.980-45del	XP_016862107.1:n.980-45del
NM_001122752.2:c.980-45del MANE Select	NP_001116224.1:n.980-45del
NM_005025.5:c.980-45del	NP_005016.1:n.980-45del