Canonical Allele Identifier: CA577728222

Gene: CALU

Linked Data

• dbSNP Id: rs1259971282
• gnomAD v2: 7-128399189-ATATATGCTATATAGCATATCACTG-A
• gnomAD v3: 7-128759135-ATATATGCTATATAGCATATCACTG-A
• gnomAD v4: 7-128759135-ATATATGCTATATAGCATATCACTG-A
• MyVariant Identifiers: chr7:g.128399190_128399213del (hg19) ; chr7:g.128759136_128759159del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128759149_128759172del , CM000669.2:g.128759149_128759172del	GRCh38
NC_000007.13:g.128399203_128399226del , CM000669.1:g.128399203_128399226del	GRCh37
NC_000007.12:g.128186439_128186462del	NCBI36
NG_033110.1:g.24858_24881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449187.7:c.582+112_582+135del	ENSP00000408838.2:n.582+112_582+135del
ENST00000542996.7:c.606+112_606+135del	ENSP00000438248.1:n.606+112_606+135del
ENST00000249364.9:c.582+112_582+135del MANE Select	ENSP00000249364.4:n.582+112_582+135del
ENST00000249364.8:c.582+112_582+135del	ENSP00000249364.4:n.582+112_582+135del
ENST00000449187.6:c.582+112_582+135del	ENSP00000408838.2:n.582+112_582+135del
ENST00000479257.5:c.606+112_606+135del	ENSP00000420381.1:n.606+112_606+135del
ENST00000493278.1:c.76+112_76+135del
ENST00000535011.6:c.582+112_582+135del	ENSP00000442110.1:n.582+112_582+135del
ENST00000542996.6:c.606+112_606+135del	ENSP00000438248.1:n.606+112_606+135del
NM_001130674.2:c.582+112_582+135del	NP_001124146.1:n.582+112_582+135del
NM_001199671.1:c.606+112_606+135del	NP_001186600.1:n.606+112_606+135del
NM_001199672.1:c.606+112_606+135del	NP_001186601.1:n.606+112_606+135del
NM_001199673.1:c.582+112_582+135del	NP_001186602.1:n.582+112_582+135del
NM_001219.4:c.582+112_582+135del	NP_001210.1:n.582+112_582+135del
NR_074086.1:n.308+112_308+135del
XM_011516588.1:c.360+112_360+135del	XP_011514890.1:n.360+112_360+135del
XM_017012659.1:c.129+112_129+135del	XP_016868148.1:n.129+112_129+135del
NM_001219.5:c.582+112_582+135del MANE Select	NP_001210.1:n.582+112_582+135del
NM_001130674.3:c.582+112_582+135del	NP_001124146.1:n.582+112_582+135del
NM_001199671.2:c.606+112_606+135del	NP_001186600.1:n.606+112_606+135del
NM_001199672.2:c.606+112_606+135del	NP_001186601.1:n.606+112_606+135del
NM_001199673.2:c.582+112_582+135del	NP_001186602.1:n.582+112_582+135del
NR_074086.2:n.241+112_241+135del