Canonical Allele Identifier: CA341248

Linked Data

dbSNP Id: rs116840807

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.197951229_197951231del , CM000665.2:g.197951229_197951231del GRCh38
NC_000003.11:g.197678100_197678102del , CM000665.1:g.197678100_197678102del GRCh37
NC_000003.10:g.199162497_199162499del NCBI36
NG_011743.1:g.6049_6051del
NG_033072.1:g.13789_13791del

Transcript Alleles

HGVS Amino-acid change
ENST00000265239.11:c.-59-5541_-59-5539del (IQCG) MANE Select ENSP00000265239.6:n.-59-5541_-59-5539del
ENST00000448864.6:c.82_84del (RPL35A) ENSP00000393393.1:p.Leu28del
ENST00000642387.1:n.273_275del (RPL35A)
ENST00000647248.2:c.82_84del (RPL35A) MANE Select ENSP00000495672.1:p.Leu28del
ENST00000265239.10:c.-59-5541_-59-5539del (IQCG) ENSP00000265239.6:n.-59-5541_-59-5539del
ENST00000329092.12:n.143_145del (RPL35A)
ENST00000416896.1:c.-49-7176_-49-7174del (IQCG) ENSP00000406411.1:n.-49-7176_-49-7174del
ENST00000429437.5:c.82_84del (RPL35A) ENSP00000398058.1:p.Leu28del
ENST00000439255.1:c.82_84del (RPL35A) ENSP00000410683.1:p.Leu28del
ENST00000442341.5:c.82_84del (RPL35A) ENSP00000387688.1:p.Leu28del
ENST00000448864.5:c.82_84del (RPL35A) ENSP00000393393.1:p.Leu28del
ENST00000464167.5:c.82_84del (RPL35A) ENSP00000419117.1:p.Leu28del
ENST00000480302.5:n.313-5541_313-5539del (IQCG)
ENST00000485439.5:n.146_148del (RPL35A)
ENST00000496582.5:n.143_145del (RPL35A)
NM_000996.2:c.82_84del (RPL35A) NP_000987.2:p.Leu28del
NM_001316311.1:c.82_84del (RPL35A) NP_001303240.1:p.Leu28del
NM_032263.3:c.-59-5541_-59-5539del (IQCG) NP_115639.1:n.-59-5541_-59-5539del
XR_924190.1:n.357-5541_357-5539del (IQCG)
NM_000996.4:c.82_84del (RPL35A) MANE Select NP_000987.2:p.Leu28del
NM_001323028.1:c.-49-7176_-49-7174del (IQCG) NP_001309957.1:n.-49-7176_-49-7174del
NM_001323029.1:c.-374-5541_-374-5539del (IQCG) NP_001309958.1:n.-374-5541_-374-5539del
NM_032263.4:c.-59-5541_-59-5539del (IQCG) NP_115639.1:n.-59-5541_-59-5539del
XM_024453790.1:c.-59-5541_-59-5539del (IQCG) XP_024309558.1:n.-59-5541_-59-5539del
XR_002959600.1:n.357-5541_357-5539del (IQCG)
NM_032263.5:c.-59-5541_-59-5539del (IQCG) MANE Select NP_115639.1:n.-59-5541_-59-5539del
NM_001316311.2:c.82_84del (RPL35A) NP_001303240.1:p.Leu28del
NM_001323028.2:c.-49-7176_-49-7174del (IQCG) NP_001309957.1:n.-49-7176_-49-7174del
NM_001323029.2:c.-374-5541_-374-5539del (IQCG) NP_001309958.1:n.-374-5541_-374-5539del