Canonical Allele Identifier: CA2750469820

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601473_73601474del , CM000664.2:g.73601473_73601474del	GRCh38
NC_000002.11:g.73828600_73828601del , CM000664.1:g.73828600_73828601del	GRCh37
NC_000002.10:g.73682108_73682109del	NCBI36
NG_011690.1:g.220721_220722del , LRG_741:g.220721_220722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+37_11733+38del	ENSP00000507671.1:n.11733+37_11733+38del
ENST00000682801.1:c.11167-712_11167-711del	ENSP00000507862.1:n.11167-712_11167-711del
ENST00000682859.1:c.11733+37_11733+38del	ENSP00000508222.1:n.11733+37_11733+38del
ENST00000683791.1:c.4819+37_4819+38del
ENST00000684460.1:c.9014+37_9014+38del
ENST00000684548.1:c.11733+37_11733+38del	ENSP00000507421.1:n.11733+37_11733+38del
ENST00000684590.1:c.6180+37_6180+38del	ENSP00000507376.1:n.6180+37_6180+38del
ENST00000684656.1:c.9198+37_9198+38del
ENST00000613296.6:c.12114+37_12114+38del MANE Select	ENSP00000482968.1:n.12114+37_12114+38del
ENST00000651057.1:c.2268+37_2268+38del	ENSP00000498504.1:n.2268+37_2268+38del
ENST00000651434.1:c.3470+37_3470+38del
ENST00000651750.1:c.1260+592_1260+593del
ENST00000652487.1:c.3285+37_3285+38del
ENST00000464408.3:n.289+37_289+38del
ENST00000484298.5:c.11988+37_11988+38del	ENSP00000478155.1:n.11988+37_11988+38del
ENST00000613296.4:c.12114+37_12114+38del	ENSP00000482968.1:n.12114+37_12114+38del
ENST00000620466.4:n.5917+37_5917+38del
NM_015120.4:c.12117+37_12117+38del , LRG_741t1:c.12117+37_12117+38del	NP_055935.4:n.12117+37_12117+38del
NM_001378454.1:c.12114+37_12114+38del MANE Select	NP_001365383.1:n.12114+37_12114+38del