Canonical Allele Identifier: CA578700395

Gene: TMEM176A

Linked Data

• dbSNP Id: rs1197744235
• gnomAD v2: 7-150501448-AGGCC-A
• gnomAD v4: 7-150804360-AGGCC-A
• MyVariant Identifiers: chr7:g.150501449_150501452del (hg19) ; chr7:g.150804361_150804364del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804361_150804364del , CM000669.2:g.150804361_150804364del	GRCh38
NC_000007.13:g.150501449_150501452del , CM000669.1:g.150501449_150501452del	GRCh37
NC_000007.12:g.150132382_150132385del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.556-1_558del
ENST00000468689.2:c.379-1_381del
ENST00000004103.7:c.556-1_558del
ENST00000461345.5:c.379-1_381del
ENST00000462826.1:n.1778-466_1778-463del
ENST00000474166.1:n.215-1_217del
ENST00000475007.5:n.452-1_454del
ENST00000475536.5:c.412-1_414del
ENST00000481305.1:n.367-466_367-463del
ENST00000484928.5:c.556-1_558del
ENST00000494349.5:n.1102-1_1104del
NM_018487.2:c.556-1_558del
XM_011516376.1:c.607-1_609del
XM_011516377.1:c.607-1_609del
XM_011516378.1:c.607-466_607-463del	XP_011514680.1:n.607-466_607-463del
XM_011516376.3:c.607-1_609del
XM_011516377.2:c.607-1_609del
XM_011516378.2:c.607-466_607-463del	XP_011514680.1:n.607-466_607-463del
XM_017012393.1:c.556-1_558del
XM_024446824.1:c.556-466_556-463del	XP_024302592.1:n.556-466_556-463del
NM_018487.3:c.556-1_558del