Canonical Allele Identifier: CA598115434

Gene: LUZP2

Linked Data

• gnomAD v2: 11-24837840-C-CTTTT
• gnomAD v3: 11-24816294-C-CTTTT
• gnomAD v4: 11-24816294-C-CTTTT
• MyVariant Identifiers: chr11:g.24837840_24837841insTTTT (hg19) ; chr11:g.24816294_24816295insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.24816297_24816298insTTTT , CM000673.2:g.24816297_24816298insTTTT	GRCh38
NC_000011.9:g.24837843_24837844insTTTT , CM000673.1:g.24837843_24837844insTTTT	GRCh37
NC_000011.8:g.24794419_24794420insTTTT	NCBI36
NG_030588.1:g.324328_324329insTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000336930.11:c.396+52989_396+52990insTTTT MANE Select	ENSP00000336817.6:n.396+52989_396+52990in...
ENST00000336930.10:c.396+52989_396+52990insTTTT	ENSP00000336817.6:n.396+52989_396+52990in...
ENST00000405855.6:n.502-15607_502-15606insTTTT
ENST00000529015.5:c.396+52989_396+52990insTTTT	ENSP00000437032.1:n.396+52989_396+52990in...
ENST00000531187.5:n.670+52989_670+52990insTTTT
ENST00000533227.5:c.138+52989_138+52990insTTTT	ENSP00000432952.1:n.138+52989_138+52990in...
ENST00000620308.1:c.138+52989_138+52990insTTTT	ENSP00000480441.1:n.138+52989_138+52990in...
NM_001009909.3:c.396+52989_396+52990insTTTT	NP_001009909.2:n.396+52989_396+52990insTT...
NM_001252008.1:c.138+52989_138+52990insTTTT	NP_001238937.1:n.138+52989_138+52990insTT...
NM_001252010.1:c.396+52989_396+52990insTTTT	NP_001238939.1:n.396+52989_396+52990insTT...
XM_011520054.1:c.774+52989_774+52990insTTTT	XP_011518356.1:n.774+52989_774+52990insTT...
XM_011520055.1:c.774+52989_774+52990insTTTT	XP_011518357.1:n.774+52989_774+52990insTT...
XM_011520056.1:c.774+52989_774+52990insTTTT	XP_011518358.1:n.774+52989_774+52990insTT...
XM_011520057.1:c.774+52989_774+52990insTTTT	XP_011518359.1:n.774+52989_774+52990insTT...
XR_930864.1:n.1148+52989_1148+52990insTTTT
XM_011520056.3:c.774+52989_774+52990insTTTT	XP_011518358.1:n.774+52989_774+52990insTT...
XM_017017648.2:c.774+52989_774+52990insTTTT	XP_016873137.2:n.774+52989_774+52990insTT...
XM_017017649.2:c.774+52989_774+52990insTTTT	XP_016873138.2:n.774+52989_774+52990insTT...
XM_024448468.1:c.774+52989_774+52990insTTTT	XP_024304236.1:n.774+52989_774+52990insTT...
XR_930864.3:n.1148+52989_1148+52990insTTTT
NM_001009909.4:c.396+52989_396+52990insTTTT MANE Select	NP_001009909.2:n.396+52989_396+52990insTT...
NM_001252008.2:c.138+52989_138+52990insTTTT	NP_001238937.1:n.138+52989_138+52990insTT...
NM_001252010.2:c.396+52989_396+52990insTTTT	NP_001238939.1:n.396+52989_396+52990insTT...