Canonical Allele Identifier: CA2750469796

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601444_73601450del , CM000664.2:g.73601444_73601450del	GRCh38
NC_000002.11:g.73828571_73828577del , CM000664.1:g.73828571_73828577del	GRCh37
NC_000002.10:g.73682079_73682085del	NCBI36
NG_011690.1:g.220692_220698del , LRG_741:g.220692_220698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+8_11733+14del	ENSP00000507671.1:n.11733+8_11733+14del
ENST00000682801.1:c.11167-741_11167-735del	ENSP00000507862.1:n.11167-741_11167-735del
ENST00000682859.1:c.11733+8_11733+14del	ENSP00000508222.1:n.11733+8_11733+14del
ENST00000683791.1:c.4819+8_4819+14del
ENST00000684460.1:c.9014+8_9014+14del
ENST00000684548.1:c.11733+8_11733+14del	ENSP00000507421.1:n.11733+8_11733+14del
ENST00000684590.1:c.6180+8_6180+14del	ENSP00000507376.1:n.6180+8_6180+14del
ENST00000684656.1:c.9198+8_9198+14del
ENST00000613296.6:c.12114+8_12114+14del MANE Select	ENSP00000482968.1:n.12114+8_12114+14del
ENST00000651057.1:c.2268+8_2268+14del	ENSP00000498504.1:n.2268+8_2268+14del
ENST00000651434.1:c.3470+8_3470+14del
ENST00000651750.1:c.1260+563_1260+569del
ENST00000652487.1:c.3285+8_3285+14del
ENST00000464408.3:n.289+8_289+14del
ENST00000484298.5:c.11988+8_11988+14del	ENSP00000478155.1:n.11988+8_11988+14del
ENST00000613296.4:c.12114+8_12114+14del	ENSP00000482968.1:n.12114+8_12114+14del
ENST00000620466.4:n.5917+8_5917+14del
NM_015120.4:c.12117+8_12117+14del , LRG_741t1:c.12117+8_12117+14del	NP_055935.4:n.12117+8_12117+14del
NM_001378454.1:c.12114+8_12114+14del MANE Select	NP_001365383.1:n.12114+8_12114+14del