Canonical Allele Identifier: CA598115431

Gene: LUZP2

Linked Data

• gnomAD v2: 11-24837836-TCAGC-T
• gnomAD v3: 11-24816290-TCAGC-T
• gnomAD v4: 11-24816290-TCAGC-T
• MyVariant Identifiers: chr11:g.24837837_24837840del (hg19) ; chr11:g.24816291_24816294del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.24816291_24816294del , CM000673.2:g.24816291_24816294del	GRCh38
NC_000011.9:g.24837837_24837840del , CM000673.1:g.24837837_24837840del	GRCh37
NC_000011.8:g.24794413_24794416del	NCBI36
NG_030588.1:g.324322_324325del

Transcript Alleles

HGVS	Amino-acid change
ENST00000336930.11:c.396+52983_396+52986del MANE Select	ENSP00000336817.6:n.396+52983_396+52986de...
ENST00000336930.10:c.396+52983_396+52986del	ENSP00000336817.6:n.396+52983_396+52986de...
ENST00000405855.6:n.502-15613_502-15610del
ENST00000529015.5:c.396+52983_396+52986del	ENSP00000437032.1:n.396+52983_396+52986de...
ENST00000531187.5:n.670+52983_670+52986del
ENST00000533227.5:c.138+52983_138+52986del	ENSP00000432952.1:n.138+52983_138+52986de...
ENST00000620308.1:c.138+52983_138+52986del	ENSP00000480441.1:n.138+52983_138+52986de...
NM_001009909.3:c.396+52983_396+52986del	NP_001009909.2:n.396+52983_396+52986del
NM_001252008.1:c.138+52983_138+52986del	NP_001238937.1:n.138+52983_138+52986del
NM_001252010.1:c.396+52983_396+52986del	NP_001238939.1:n.396+52983_396+52986del
XM_011520054.1:c.774+52983_774+52986del	XP_011518356.1:n.774+52983_774+52986del
XM_011520055.1:c.774+52983_774+52986del	XP_011518357.1:n.774+52983_774+52986del
XM_011520056.1:c.774+52983_774+52986del	XP_011518358.1:n.774+52983_774+52986del
XM_011520057.1:c.774+52983_774+52986del	XP_011518359.1:n.774+52983_774+52986del
XR_930864.1:n.1148+52983_1148+52986del
XM_011520056.3:c.774+52983_774+52986del	XP_011518358.1:n.774+52983_774+52986del
XM_017017648.2:c.774+52983_774+52986del	XP_016873137.2:n.774+52983_774+52986del
XM_017017649.2:c.774+52983_774+52986del	XP_016873138.2:n.774+52983_774+52986del
XM_024448468.1:c.774+52983_774+52986del	XP_024304236.1:n.774+52983_774+52986del
XR_930864.3:n.1148+52983_1148+52986del
NM_001009909.4:c.396+52983_396+52986del MANE Select	NP_001009909.2:n.396+52983_396+52986del
NM_001252008.2:c.138+52983_138+52986del	NP_001238937.1:n.138+52983_138+52986del
NM_001252010.2:c.396+52983_396+52986del	NP_001238939.1:n.396+52983_396+52986del