Canonical Allele Identifier: CA2750469834

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601494_73601496del , CM000664.2:g.73601494_73601496del	GRCh38
NC_000002.11:g.73828621_73828623del , CM000664.1:g.73828621_73828623del	GRCh37
NC_000002.10:g.73682129_73682131del	NCBI36
NG_011690.1:g.220742_220744del , LRG_741:g.220742_220744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+58_11733+60del	ENSP00000507671.1:n.11733+58_11733+60del
ENST00000682801.1:c.11167-691_11167-689del	ENSP00000507862.1:n.11167-691_11167-689del
ENST00000682859.1:c.11733+58_11733+60del	ENSP00000508222.1:n.11733+58_11733+60del
ENST00000683791.1:c.4819+58_4819+60del
ENST00000684460.1:c.9014+58_9014+60del
ENST00000684548.1:c.11733+58_11733+60del	ENSP00000507421.1:n.11733+58_11733+60del
ENST00000684590.1:c.6180+58_6180+60del	ENSP00000507376.1:n.6180+58_6180+60del
ENST00000684656.1:c.9198+58_9198+60del
ENST00000613296.6:c.12114+58_12114+60del MANE Select	ENSP00000482968.1:n.12114+58_12114+60del
ENST00000651057.1:c.2268+58_2268+60del	ENSP00000498504.1:n.2268+58_2268+60del
ENST00000651434.1:c.3470+58_3470+60del
ENST00000651750.1:c.1260+613_1260+615del
ENST00000652487.1:c.3285+58_3285+60del
ENST00000464408.3:n.289+58_289+60del
ENST00000484298.5:c.11988+58_11988+60del	ENSP00000478155.1:n.11988+58_11988+60del
ENST00000613296.4:c.12114+58_12114+60del	ENSP00000482968.1:n.12114+58_12114+60del
ENST00000620466.4:n.5917+58_5917+60del
NM_015120.4:c.12117+58_12117+60del , LRG_741t1:c.12117+58_12117+60del	NP_055935.4:n.12117+58_12117+60del
NM_001378454.1:c.12114+58_12114+60del MANE Select	NP_001365383.1:n.12114+58_12114+60del