Canonical Allele Identifier: CA2577005285

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601510-GTGACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601513_73601517del , CM000664.2:g.73601513_73601517del	GRCh38
NC_000002.11:g.73828640_73828644del , CM000664.1:g.73828640_73828644del	GRCh37
NC_000002.10:g.73682148_73682152del	NCBI36
NG_011690.1:g.220761_220765del , LRG_741:g.220761_220765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+77_11733+81del	ENSP00000507671.1:n.11733+77_11733+81del
ENST00000682801.1:c.11167-672_11167-668del	ENSP00000507862.1:n.11167-672_11167-668del
ENST00000682859.1:c.11733+77_11733+81del	ENSP00000508222.1:n.11733+77_11733+81del
ENST00000683791.1:c.4819+77_4819+81del
ENST00000684460.1:c.9014+77_9014+81del
ENST00000684548.1:c.11733+77_11733+81del	ENSP00000507421.1:n.11733+77_11733+81del
ENST00000684590.1:c.6180+77_6180+81del	ENSP00000507376.1:n.6180+77_6180+81del
ENST00000684656.1:c.9198+77_9198+81del
ENST00000613296.6:c.12114+77_12114+81del MANE Select	ENSP00000482968.1:n.12114+77_12114+81del
ENST00000651057.1:c.2268+77_2268+81del	ENSP00000498504.1:n.2268+77_2268+81del
ENST00000651434.1:c.3470+77_3470+81del
ENST00000651750.1:c.1260+632_1260+636del
ENST00000652487.1:c.3285+77_3285+81del
ENST00000464408.3:n.289+77_289+81del
ENST00000484298.5:c.11988+77_11988+81del	ENSP00000478155.1:n.11988+77_11988+81del
ENST00000613296.4:c.12114+77_12114+81del	ENSP00000482968.1:n.12114+77_12114+81del
ENST00000620466.4:n.5917+77_5917+81del
NM_015120.4:c.12117+77_12117+81del , LRG_741t1:c.12117+77_12117+81del	NP_055935.4:n.12117+77_12117+81del
NM_001378454.1:c.12114+77_12114+81del MANE Select	NP_001365383.1:n.12114+77_12114+81del