Canonical Allele Identifier: CA2664933247

Gene: GLB1 TMPPE

Linked Data

• gnomAD v4: 3-33097141-TTGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33097143_33097146del , CM000665.2:g.33097143_33097146del	GRCh38
NC_000003.11:g.33138635_33138638del , CM000665.1:g.33138635_33138638del	GRCh37
NC_000003.10:g.33113639_33113642del	NCBI36
NG_009005.1:g.5058_5061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.-60_-57del (GLB1) MANE Select	ENSP00000306920.4:n.-60_-57del
ENST00000342462.5:c.-535_-532del (TMPPE) MANE Select	ENSP00000343398.4:n.-535_-532del
ENST00000307363.9:c.-60_-57del (GLB1)	ENSP00000306920.4:n.-60_-57del
ENST00000307377.12:c.-60_-57del (GLB1)	ENSP00000305920.8:n.-60_-57del
ENST00000436768.1:c.-60_-57del (GLB1)	ENSP00000387989.1:n.-60_-57del
ENST00000438227.1:c.-60_-57del (GLB1)	ENSP00000401250.1:n.-60_-57del
ENST00000440656.1:c.-283_-280del (GLB1)	ENSP00000411769.1:n.-283_-280del
ENST00000485698.5:n.2_5del (GLB1)
NM_000404.2:c.-60_-57del (GLB1)	NP_000395.2:n.-60_-57del
NM_000404.3:c.-60_-57del (GLB1)	NP_000395.2:n.-60_-57del
NM_001135602.1:c.-60_-57del (GLB1)	NP_001129074.1:n.-60_-57del
NM_001135602.2:c.-60_-57del (GLB1)	NP_001129074.1:n.-60_-57del
NM_001317040.1:c.-60_-57del (GLB1)	NP_001303969.1:n.-60_-57del
NM_000404.4:c.-60_-57del (GLB1) MANE Select	NP_000395.3:n.-60_-57del
NM_001039770.3:c.-535_-532del (TMPPE) MANE Select	NP_001034859.2:n.-535_-532del
NM_001136238.2:c.-431_-428del (TMPPE)	NP_001129710.1:n.-431_-428del
NM_001135602.3:c.-60_-57del (GLB1)	NP_001129074.2:n.-60_-57del
NM_001317040.2:c.-60_-57del (GLB1)	NP_001303969.2:n.-60_-57del
NM_001393580.1:c.-60_-57del (GLB1)	NP_001380509.1:n.-60_-57del