Canonical Allele Identifier: CA902696359

Gene: SPATA16

Linked Data

• dbSNP Id: rs1458978715
• gnomAD v3: 3-173019311-TTTAA-T
• gnomAD v4: 3-173019311-TTTAA-T
• MyVariant Identifiers: chr3:g.172737102_172737105del (hg19) ; chr3:g.173019312_173019315del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.173019316_173019319del , CM000665.2:g.173019316_173019319del	GRCh38
NC_000003.11:g.172737106_172737109del , CM000665.1:g.172737106_172737109del	GRCh37
NC_000003.10:g.174219800_174219803del	NCBI36
NG_021422.1:g.126954_126957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351008.4:c.848+171_848+174del MANE Select	ENSP00000341765.3:n.848+171_848+174del
ENST00000351008.3:c.848+171_848+174del	ENSP00000341765.3:n.848+171_848+174del
NM_031955.5:c.848+171_848+174del	NP_114161.3:n.848+171_848+174del
XM_006713778.2:c.848+171_848+174del	XP_006713841.1:n.848+171_848+174del
XM_011513222.1:c.848+171_848+174del	XP_011511524.1:n.848+171_848+174del
XM_006713778.3:c.848+171_848+174del	XP_006713841.1:n.848+171_848+174del
XM_017007308.2:c.848+171_848+174del	XP_016862797.1:n.848+171_848+174del
NM_031955.6:c.848+171_848+174del MANE Select	NP_114161.3:n.848+171_848+174del