Canonical Allele Identifier: CA2650564401

Gene: RAB3GAP2

Linked Data

• gnomAD v4: 1-220191374-GGGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191380_220191384del , CM000663.2:g.220191380_220191384del	GRCh38
NC_000001.10:g.220364722_220364726del , CM000663.1:g.220364722_220364726del	GRCh37
NC_000001.9:g.218431345_218431349del	NCBI36
NG_015837.1:g.86123_86127del
NG_015837.2:g.86123_86127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1271-95_1271-91del	ENSP00000509457.1:n.1271-95_1271-91del
ENST00000685664.1:c.1271-95_1271-91del	ENSP00000509121.1:n.1271-95_1271-91del
ENST00000686381.1:c.1007-95_1007-91del	ENSP00000509555.1:n.1007-95_1007-91del
ENST00000687065.1:c.1007-95_1007-91del	ENSP00000510408.1:n.1007-95_1007-91del
ENST00000687394.1:n.1377-95_1377-91del
ENST00000687647.1:c.1007-95_1007-91del	ENSP00000509205.1:n.1007-95_1007-91del
ENST00000688035.1:n.1686-95_1686-91del
ENST00000690315.1:c.1172-95_1172-91del	ENSP00000509834.1:n.1172-95_1172-91del
ENST00000690373.1:n.1610-95_1610-91del
ENST00000690379.1:n.1301-95_1301-91del
ENST00000690824.1:c.1271-95_1271-91del	ENSP00000510709.1:n.1271-95_1271-91del
ENST00000691661.1:c.1283-95_1283-91del	ENSP00000510185.1:n.1283-95_1283-91del
ENST00000691862.1:c.1169-95_1169-91del	ENSP00000509291.1:n.1169-95_1169-91del
ENST00000692813.1:c.1271-95_1271-91del	ENSP00000509080.1:n.1271-95_1271-91del
ENST00000692972.1:c.1346-95_1346-91del	ENSP00000510753.1:n.1346-95_1346-91del
ENST00000693454.1:n.481-95_481-91del
ENST00000693602.1:n.1364-95_1364-91del
ENST00000358951.7:c.1271-95_1271-91del MANE Select	ENSP00000351832.2:n.1271-95_1271-91del
ENST00000358951.6:c.1271-95_1271-91del	ENSP00000351832.2:n.1271-95_1271-91del
ENST00000478976.1:n.292-954_292-950del
NM_012414.3:c.1271-95_1271-91del	NP_036546.2:n.1271-95_1271-91del
NM_012414.4:c.1271-95_1271-91del MANE Select	NP_036546.2:n.1271-95_1271-91del