Canonical Allele Identifier: CA9113817

Gene: RPL36

Linked Data

• dbSNP Id: rs2054817846
• ExAC: 19:5691463 GGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA / G
• gnomAD v2: 19-5691463-GGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA-G
• gnomAD v3: 19-5691452-GGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA-G
• gnomAD v4: 19-5691452-GGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA-G
• MyVariant Identifiers: chr19:g.5691464_5691541del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5691456_5691533del , CM000681.2:g.5691456_5691533del	GRCh38
NC_000019.9:g.5691467_5691544del , CM000681.1:g.5691467_5691544del	GRCh37
NC_000019.8:g.5642467_5642544del	NCBI36
NG_017015.1:g.6196_6273del
NG_033142.1:g.33923_34000del

Transcript Alleles

HGVS	Amino-acid change
ENST00000347512.8:c.228+3_230del
ENST00000347512.7:c.228+3_230del
ENST00000394580.2:c.228+3_230del
ENST00000577222.5:c.228+3_230del
ENST00000579446.1:c.231_*23del	ENSP00000464613.1:n.[c.231_*23del;Gly79Th...
ENST00000579649.5:c.228+3_230del
NM_015414.3:c.228+3_230del
NM_033643.2:c.228+3_230del
NM_033643.3:c.228+3_230del
NM_015414.4:c.228+3_230del