Canonical Allele Identifier: CA554146480

Gene: LARP7

Linked Data

• dbSNP Id: rs1473509208
• gnomAD v2: 4-113567673-GATT-G
• gnomAD v3: 4-112646517-GATT-G
• gnomAD v4: 4-112646517-GATT-G
• MyVariant Identifiers: chr4:g.113567674_113567676del (hg19) ; chr4:g.112646518_112646520del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112646523_112646525del , CM000666.2:g.112646523_112646525del	GRCh38
NC_000004.11:g.113567679_113567681del , CM000666.1:g.113567679_113567681del	GRCh37
NC_000004.10:g.113787128_113787130del	NCBI36
NG_032779.1:g.14560_14562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505034.6:c.304-65_304-63del	ENSP00000421541.2:n.304-65_304-63del
ENST00000505216.2:c.*63-65_*63-63del	ENSP00000424116.1:n.*63-65_*63-63del
ENST00000694891.1:c.304-65_304-63del	ENSP00000511571.1:n.304-65_304-63del
ENST00000694892.1:n.379_381del
ENST00000694893.1:n.468_470del
ENST00000694894.1:c.304-65_304-63del	ENSP00000511572.1:n.304-65_304-63del
ENST00000694895.1:c.304-65_304-63del	ENSP00000511573.1:n.304-65_304-63del
ENST00000694896.1:c.304-65_304-63del	ENSP00000511574.1:n.304-65_304-63del
ENST00000694897.1:c.304-65_304-63del	ENSP00000511575.1:n.304-65_304-63del
ENST00000694898.1:c.304-65_304-63del	ENSP00000511576.1:n.304-65_304-63del
ENST00000694899.1:c.304-65_304-63del	ENSP00000511577.1:n.304-65_304-63del
ENST00000694900.1:c.304-65_304-63del	ENSP00000511578.1:n.304-65_304-63del
ENST00000694901.1:c.*63-65_*63-63del	ENSP00000511579.1:n.*63-65_*63-63del
ENST00000694902.1:n.825-65_825-63del
ENST00000511529.2:c.304-65_304-63del	ENSP00000426376.2:n.304-65_304-63del
ENST00000512361.2:n.413-65_413-63del
ENST00000512589.6:c.*110-65_*110-63del	ENSP00000426709.1:n.*110-65_*110-63del
ENST00000684864.1:c.304-65_304-63del	ENSP00000509993.1:n.304-65_304-63del
ENST00000688617.1:n.578-65_578-63del
ENST00000689262.1:n.1455-65_1455-63del
ENST00000689844.1:c.304-65_304-63del	ENSP00000509899.1:n.304-65_304-63del
ENST00000690008.1:c.*63-65_*63-63del	ENSP00000508938.1:n.*63-65_*63-63del
ENST00000692075.1:n.469-65_469-63del
ENST00000692168.1:n.392-65_392-63del
ENST00000692416.1:c.67-65_67-63del	ENSP00000509527.1:n.67-65_67-63del
ENST00000693375.1:c.67-65_67-63del	ENSP00000508585.1:n.67-65_67-63del
ENST00000693442.1:c.304-65_304-63del	ENSP00000509975.1:n.304-65_304-63del
ENST00000344442.10:c.304-65_304-63del MANE Select	ENSP00000344950.5:n.304-65_304-63del
ENST00000651579.1:c.304-65_304-63del	ENSP00000499190.1:n.304-65_304-63del
ENST00000324052.10:c.304-65_304-63del	ENSP00000314311.6:n.304-65_304-63del
ENST00000344442.9:c.304-65_304-63del	ENSP00000344950.5:n.304-65_304-63del
ENST00000505034.5:c.304-65_304-63del	ENSP00000421541.1:n.304-65_304-63del
ENST00000505216.1:c.*63-65_*63-63del	ENSP00000424116.1:n.*63-65_*63-63del
ENST00000507443.1:c.304-65_304-63del	ENSP00000421963.1:n.304-65_304-63del
ENST00000508577.5:c.304-65_304-63del	ENSP00000426646.1:n.304-65_304-63del
ENST00000509061.5:c.325-65_325-63del	ENSP00000422626.1:n.325-65_325-63del
ENST00000509622.5:c.*63-65_*63-63del	ENSP00000422451.1:n.*63-65_*63-63del
ENST00000512589.5:c.*110-65_*110-63del	ENSP00000426709.1:n.*110-65_*110-63del
ENST00000513553.5:c.31-1196_31-1194del	ENSP00000422013.1:n.31-1196_31-1194del
NM_001267039.1:c.325-65_325-63del	NP_001253968.1:n.325-65_325-63del
NM_015454.2:c.304-65_304-63del	NP_056269.1:n.304-65_304-63del
NM_016648.3:c.304-65_304-63del	NP_057732.2:n.304-65_304-63del
NR_049768.1:n.479-65_479-63del
XM_024454080.1:c.304-65_304-63del	XP_024309848.1:n.304-65_304-63del
XM_024454081.1:c.304-65_304-63del	XP_024309849.1:n.304-65_304-63del
XM_024454082.1:c.304-65_304-63del	XP_024309850.1:n.304-65_304-63del
XM_024454083.1:c.304-65_304-63del	XP_024309851.1:n.304-65_304-63del
XM_024454084.1:c.304-65_304-63del	XP_024309852.1:n.304-65_304-63del
XM_024454085.1:c.304-65_304-63del	XP_024309853.1:n.304-65_304-63del
XM_024454086.1:c.67-65_67-63del	XP_024309854.1:n.67-65_67-63del
XM_024454087.1:c.67-65_67-63del	XP_024309855.1:n.67-65_67-63del
XM_024454088.1:c.67-65_67-63del	XP_024309856.1:n.67-65_67-63del
XM_024454089.1:c.-562_-560del	XP_024309857.1:n.-562_-560del
NM_016648.4:c.304-65_304-63del MANE Select	NP_057732.2:n.304-65_304-63del
NM_001370974.1:c.304-65_304-63del	NP_001357903.1:n.304-65_304-63del
NM_001370975.1:c.304-65_304-63del	NP_001357904.1:n.304-65_304-63del
NM_001370976.1:c.304-65_304-63del	NP_001357905.1:n.304-65_304-63del
NM_001370977.1:c.304-65_304-63del	NP_001357906.1:n.304-65_304-63del
NM_001370978.1:c.304-65_304-63del	NP_001357907.1:n.304-65_304-63del
NM_001370979.1:c.304-65_304-63del	NP_001357908.1:n.304-65_304-63del
NM_001370980.1:c.304-65_304-63del	NP_001357909.1:n.304-65_304-63del
NM_001370981.1:c.67-65_67-63del	NP_001357910.1:n.67-65_67-63del
NM_001370982.1:c.67-65_67-63del	NP_001357911.1:n.67-65_67-63del
NM_001267039.2:c.325-65_325-63del	NP_001253968.1:n.325-65_325-63del
NM_015454.3:c.304-65_304-63del	NP_056269.1:n.304-65_304-63del
NM_001267039.4:c.304-65_304-63del	NP_001253968.2:n.304-65_304-63del