Canonical Allele Identifier: CA2659619828

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73489933-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489935del , CM000664.2:g.73489935del	GRCh38
NC_000002.11:g.73717062del , CM000664.1:g.73717062del	GRCh37
NC_000002.10:g.73570570del	NCBI36
NG_011690.1:g.109183del , LRG_741:g.109183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7595del	ENSP00000507671.1:p.Pro2532LeufsTer25
ENST00000682801.1:c.7595del	ENSP00000507862.1:p.Pro2532LeufsTer25
ENST00000682859.1:c.7595del	ENSP00000508222.1:p.Pro2532LeufsTer25
ENST00000683791.1:c.987del
ENST00000684460.1:c.5047del
ENST00000684548.1:c.7595del	ENSP00000507421.1:p.Pro2532LeufsTer25
ENST00000684590.1:c.2042del	ENSP00000507376.1:p.Pro681LeufsTer25
ENST00000684656.1:c.5047del
ENST00000613296.6:c.7976del MANE Select	ENSP00000482968.1:p.Pro2659LeufsTer25
ENST00000651434.1:c.896-29840del
ENST00000423048.5:c.2807del	ENSP00000399833.1:p.Pro936LeufsTer25
ENST00000484298.5:c.7850del	ENSP00000478155.1:p.Pro2617LeufsTer25
ENST00000613296.4:c.7976del	ENSP00000482968.1:p.Pro2659LeufsTer25
ENST00000614410.4:c.7976del	ENSP00000479094.1:p.Pro2659LeufsTer25
ENST00000620466.4:n.1779del
NM_015120.4:c.7979del , LRG_741t1:c.7979del	NP_055935.4:p.Pro2660LeufsTer25
NM_001378454.1:c.7976del MANE Select	NP_001365383.1:p.Pro2659LeufsTer25