Canonical Allele Identifier: CA2510624158
Gene: GTF2H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18335715_18335716del , CM000673.2:g.18335715_18335716del GRCh38
NC_000011.9:g.18357262_18357263del , CM000673.1:g.18357262_18357263del GRCh37
NC_000011.8:g.18313838_18313839del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265963.9:c.155-39_155-38del MANE Select ENSP00000265963.4:n.155-39_155-38del
ENST00000265963.8:c.155-39_155-38del ENSP00000265963.4:n.155-39_155-38del
ENST00000418116.6:n.354-39_354-38del
ENST00000453096.6:c.155-39_155-38del ENSP00000393638.2:n.155-39_155-38del
ENST00000525831.5:c.155-39_155-38del ENSP00000431481.1:n.155-39_155-38del
ENST00000531757.5:n.425-39_425-38del
ENST00000534641.5:c.-1-2394_-1-2393del ENSP00000435375.1:n.-1-2394_-1-2393del
ENST00000543932.5:n.568-39_568-38del
NM_001142307.1:c.155-39_155-38del NP_001135779.1:n.155-39_155-38del
NM_005316.3:c.155-39_155-38del NP_005307.1:n.155-39_155-38del
XM_006718208.2:c.155-39_155-38del XP_006718271.1:n.155-39_155-38del
XM_006718208.3:c.155-39_155-38del XP_006718271.1:n.155-39_155-38del
XM_024448457.1:c.155-39_155-38del XP_024304225.1:n.155-39_155-38del
XM_024448458.1:c.155-39_155-38del XP_024304226.1:n.155-39_155-38del
NM_005316.4:c.155-39_155-38del MANE Select NP_005307.1:n.155-39_155-38del
NM_001142307.2:c.155-39_155-38del NP_001135779.1:n.155-39_155-38del