Canonical Allele Identifier: CA2750469860

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601523_73601525del , CM000664.2:g.73601523_73601525del	GRCh38
NC_000002.11:g.73828650_73828652del , CM000664.1:g.73828650_73828652del	GRCh37
NC_000002.10:g.73682158_73682160del	NCBI36
NG_011690.1:g.220771_220773del , LRG_741:g.220771_220773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+87_11733+89del	ENSP00000507671.1:n.11733+87_11733+89del
ENST00000682801.1:c.11167-662_11167-660del	ENSP00000507862.1:n.11167-662_11167-660del
ENST00000682859.1:c.11733+87_11733+89del	ENSP00000508222.1:n.11733+87_11733+89del
ENST00000683791.1:c.4819+87_4819+89del
ENST00000684460.1:c.9014+87_9014+89del
ENST00000684548.1:c.11733+87_11733+89del	ENSP00000507421.1:n.11733+87_11733+89del
ENST00000684590.1:c.6180+87_6180+89del	ENSP00000507376.1:n.6180+87_6180+89del
ENST00000684656.1:c.9198+87_9198+89del
ENST00000613296.6:c.12114+87_12114+89del MANE Select	ENSP00000482968.1:n.12114+87_12114+89del
ENST00000651057.1:c.2268+87_2268+89del	ENSP00000498504.1:n.2268+87_2268+89del
ENST00000651434.1:c.3470+87_3470+89del
ENST00000651750.1:c.1260+642_1260+644del
ENST00000652487.1:c.3285+87_3285+89del
ENST00000464408.3:n.289+87_289+89del
ENST00000484298.5:c.11988+87_11988+89del	ENSP00000478155.1:n.11988+87_11988+89del
ENST00000613296.4:c.12114+87_12114+89del	ENSP00000482968.1:n.12114+87_12114+89del
ENST00000620466.4:n.5917+87_5917+89del
NM_015120.4:c.12117+87_12117+89del , LRG_741t1:c.12117+87_12117+89del	NP_055935.4:n.12117+87_12117+89del
NM_001378454.1:c.12114+87_12114+89del MANE Select	NP_001365383.1:n.12114+87_12114+89del