Canonical Allele Identifier: CA245297440

Gene: TMEM132C

Linked Data

• dbSNP Id: rs34680984
• gnomAD v2: 12-129186444-CTTTT-C
• gnomAD v3: 12-128701899-CTTTT-C
• gnomAD v4: 12-128701899-CTTTT-C
• MyVariant Identifiers: chr12:g.129186445_129186448del (hg19) ; chr12:g.128701900_128701903del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128701914_128701917del , CM000674.2:g.128701914_128701917del	GRCh38
NC_000012.11:g.129186459_129186462del , CM000674.1:g.129186459_129186462del	GRCh37
NC_000012.10:g.127752412_127752415del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435159.3:c.2122-3176_2122-3173del MANE Select	ENSP00000410852.2:n.2122-3176_2122-3173del
ENST00000435159.2:c.2122-3176_2122-3173del	ENSP00000410852.2:n.2122-3176_2122-3173del
NM_001136103.2:c.2122-3176_2122-3173del	NP_001129575.2:n.2122-3176_2122-3173del
XM_011538998.1:c.2062-3176_2062-3173del	XP_011537300.1:n.2062-3176_2062-3173del
XM_011538998.2:c.2062-3176_2062-3173del	XP_011537300.1:n.2062-3176_2062-3173del
XR_001748922.1:n.2355-2738_2355-2735del
NM_001136103.3:c.2122-3176_2122-3173del MANE Select	NP_001129575.2:n.2122-3176_2122-3173del
NM_001387058.1:c.2062-3176_2062-3173del	NP_001373987.1:n.2062-3176_2062-3173del