Canonical Allele Identifier: CA608136479

Gene: TMEM132C

Linked Data

• dbSNP Id: rs1253791776
• gnomAD v2: 12-129186488-CAGCTGG-C
• gnomAD v3: 12-128701943-CAGCTGG-C
• gnomAD v4: 12-128701943-CAGCTGG-C
• MyVariant Identifiers: chr12:g.129186489_129186494del (hg19) ; chr12:g.128701944_128701949del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128701946_128701951del , CM000674.2:g.128701946_128701951del	GRCh38
NC_000012.11:g.129186491_129186496del , CM000674.1:g.129186491_129186496del	GRCh37
NC_000012.10:g.127752444_127752449del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435159.3:c.2122-3144_2122-3139del MANE Select	ENSP00000410852.2:n.2122-3144_2122-3139del
ENST00000435159.2:c.2122-3144_2122-3139del	ENSP00000410852.2:n.2122-3144_2122-3139del
NM_001136103.2:c.2122-3144_2122-3139del	NP_001129575.2:n.2122-3144_2122-3139del
XM_011538998.1:c.2062-3144_2062-3139del	XP_011537300.1:n.2062-3144_2062-3139del
XM_011538998.2:c.2062-3144_2062-3139del	XP_011537300.1:n.2062-3144_2062-3139del
XR_001748922.1:n.2355-2706_2355-2701del
NM_001136103.3:c.2122-3144_2122-3139del MANE Select	NP_001129575.2:n.2122-3144_2122-3139del
NM_001387058.1:c.2062-3144_2062-3139del	NP_001373987.1:n.2062-3144_2062-3139del