Canonical Allele Identifier: CA710128891

Gene: SERPINA12

Linked Data

• dbSNP Id: rs1231942987
• gnomAD v3: 14-94493750-TTC-T
• gnomAD v4: 14-94493750-TTC-T
• MyVariant Identifiers: chr14:g.94960088_94960089del (hg19) ; chr14:g.94493751_94493752del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94493752_94493753del , CM000676.2:g.94493752_94493753del	GRCh38
NC_000014.8:g.94960089_94960090del , CM000676.1:g.94960089_94960090del	GRCh37
NC_000014.7:g.94029842_94029843del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000677451.1:c.905+2621_905+2622del MANE Select	ENSP00000503935.1:n.905+2621_905+2622del
ENST00000341228.2:c.905+2621_905+2622del	ENSP00000342109.2:n.905+2621_905+2622del
ENST00000556881.5:c.905+2621_905+2622del	ENSP00000451738.1:n.905+2621_905+2622del
NM_001304461.1:c.905+2621_905+2622del	NP_001291390.1:n.905+2621_905+2622del
NM_173850.3:c.905+2621_905+2622del	NP_776249.1:n.905+2621_905+2622del
XM_011536451.1:c.905+2621_905+2622del	XP_011534753.1:n.905+2621_905+2622del
XM_011536452.1:c.905+2621_905+2622del	XP_011534754.1:n.905+2621_905+2622del
XM_011536453.1:c.905+2621_905+2622del	XP_011534755.1:n.905+2621_905+2622del
XM_011536454.1:c.905+2621_905+2622del	XP_011534756.1:n.905+2621_905+2622del
XM_011536455.1:c.905+2621_905+2622del	XP_011534757.1:n.905+2621_905+2622del
XM_011536451.3:c.905+2621_905+2622del	XP_011534753.1:n.905+2621_905+2622del
XM_011536452.3:c.905+2621_905+2622del	XP_011534754.1:n.905+2621_905+2622del
XM_011536453.2:c.905+2621_905+2622del	XP_011534755.1:n.905+2621_905+2622del
XM_011536454.3:c.905+2621_905+2622del	XP_011534756.1:n.905+2621_905+2622del
XM_017020989.2:c.905+2621_905+2622del	XP_016876478.1:n.905+2621_905+2622del
XM_017020990.1:c.905+2621_905+2622del	XP_016876479.1:n.905+2621_905+2622del
NM_001304461.2:c.905+2621_905+2622del	NP_001291390.1:n.905+2621_905+2622del
NM_173850.4:c.905+2621_905+2622del	NP_776249.1:n.905+2621_905+2622del
NM_001382267.1:c.905+2621_905+2622del MANE Select	NP_001369196.1:n.905+2621_905+2622del