Canonical Allele Identifier: CA643689538

Gene: SERPINA7

Linked Data

• dbSNP Id: rs1252750937
• gnomAD v2: X-105278274-AT-A
• gnomAD v3: X-106034283-AT-A
• gnomAD v4: X-106034283-AT-A
• MyVariant Identifiers: chrX:g.105278275del (hg19) ; chrX:g.106034284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106034287del , CM000685.2:g.106034287del	GRCh38
NC_000023.10:g.105278278del , CM000685.1:g.105278278del	GRCh37
NC_000023.9:g.105164934del	NCBI36
NG_021252.1:g.9444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.995del MANE Select	ENSP00000361644.1:p.Asn332MetfsTer13
ENST00000327674.8:c.995del	ENSP00000329374.4:p.Asn332MetfsTer13
ENST00000372563.1:c.995del	ENSP00000361644.1:p.Asn332MetfsTer13
ENST00000487487.1:n.268del
NM_000354.5:c.995del	NP_000345.2:p.Asn332MetfsTer13
XM_005262180.3:c.995del	XP_005262237.1:p.Asn332MetfsTer13
XM_006724683.1:c.995del	XP_006724746.1:p.Asn332MetfsTer13
XM_005262180.4:c.995del	XP_005262237.1:p.Asn332MetfsTer13
XM_006724683.2:c.995del	XP_006724746.1:p.Asn332MetfsTer13
NM_000354.6:c.995del MANE Select	NP_000345.2:p.Asn332MetfsTer13