Canonical Allele Identifier: CA674318797

Gene: GTF2H1

Linked Data

• dbSNP Id: rs1475477399
• gnomAD v3: 11-18336057-TTTTG-T
• gnomAD v4: 11-18336057-TTTTG-T
• MyVariant Identifiers: chr11:g.18357605_18357608del (hg19) ; chr11:g.18336058_18336061del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18336060_18336063del , CM000673.2:g.18336060_18336063del	GRCh38
NC_000011.9:g.18357607_18357610del , CM000673.1:g.18357607_18357610del	GRCh37
NC_000011.8:g.18314183_18314186del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.347+114_347+117del MANE Select	ENSP00000265963.4:n.347+114_347+117del
ENST00000265963.8:c.347+114_347+117del	ENSP00000265963.4:n.347+114_347+117del
ENST00000418116.6:n.546+114_546+117del
ENST00000453096.6:c.347+114_347+117del	ENSP00000393638.2:n.347+114_347+117del
ENST00000534641.5:c.-1-2049_-1-2046del	ENSP00000435375.1:n.-1-2049_-1-2046del
ENST00000543932.5:n.760+114_760+117del
NM_001142307.1:c.347+114_347+117del	NP_001135779.1:n.347+114_347+117del
NM_005316.3:c.347+114_347+117del	NP_005307.1:n.347+114_347+117del
XM_006718208.2:c.347+114_347+117del	XP_006718271.1:n.347+114_347+117del
XM_006718208.3:c.347+114_347+117del	XP_006718271.1:n.347+114_347+117del
XM_024448457.1:c.347+114_347+117del	XP_024304225.1:n.347+114_347+117del
XM_024448458.1:c.347+114_347+117del	XP_024304226.1:n.347+114_347+117del
NM_005316.4:c.347+114_347+117del MANE Select	NP_005307.1:n.347+114_347+117del
NM_001142307.2:c.347+114_347+117del	NP_001135779.1:n.347+114_347+117del