Canonical Allele Identifier: CA2750469817

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601471_73601476del , CM000664.2:g.73601471_73601476del	GRCh38
NC_000002.11:g.73828598_73828603del , CM000664.1:g.73828598_73828603del	GRCh37
NC_000002.10:g.73682106_73682111del	NCBI36
NG_011690.1:g.220719_220724del , LRG_741:g.220719_220724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+35_11733+40del	ENSP00000507671.1:n.11733+35_11733+40del
ENST00000682801.1:c.11167-714_11167-709del	ENSP00000507862.1:n.11167-714_11167-709del
ENST00000682859.1:c.11733+35_11733+40del	ENSP00000508222.1:n.11733+35_11733+40del
ENST00000683791.1:c.4819+35_4819+40del
ENST00000684460.1:c.9014+35_9014+40del
ENST00000684548.1:c.11733+35_11733+40del	ENSP00000507421.1:n.11733+35_11733+40del
ENST00000684590.1:c.6180+35_6180+40del	ENSP00000507376.1:n.6180+35_6180+40del
ENST00000684656.1:c.9198+35_9198+40del
ENST00000613296.6:c.12114+35_12114+40del MANE Select	ENSP00000482968.1:n.12114+35_12114+40del
ENST00000651057.1:c.2268+35_2268+40del	ENSP00000498504.1:n.2268+35_2268+40del
ENST00000651434.1:c.3470+35_3470+40del
ENST00000651750.1:c.1260+590_1260+595del
ENST00000652487.1:c.3285+35_3285+40del
ENST00000464408.3:n.289+35_289+40del
ENST00000484298.5:c.11988+35_11988+40del	ENSP00000478155.1:n.11988+35_11988+40del
ENST00000613296.4:c.12114+35_12114+40del	ENSP00000482968.1:n.12114+35_12114+40del
ENST00000620466.4:n.5917+35_5917+40del
NM_015120.4:c.12117+35_12117+40del , LRG_741t1:c.12117+35_12117+40del	NP_055935.4:n.12117+35_12117+40del
NM_001378454.1:c.12114+35_12114+40del MANE Select	NP_001365383.1:n.12114+35_12114+40del