Canonical Allele Identifier: CA892825290

Gene: ALMS1

Linked Data

• dbSNP Id: rs1394176149
• gnomAD v3: 2-73572113-CTT-C
• gnomAD v4: 2-73572113-CTT-C
• MyVariant Identifiers: chr2:g.73799241_73799242del (hg19) ; chr2:g.73572114_73572115del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572116_73572117del , CM000664.2:g.73572116_73572117del	GRCh38
NC_000002.11:g.73799243_73799244del , CM000664.1:g.73799243_73799244del	GRCh37
NC_000002.10:g.73652751_73652752del	NCBI36
NG_011690.1:g.191364_191365del , LRG_741:g.191364_191365del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-146_10004-145del	ENSP00000507671.1:n.10004-146_10004-145del
ENST00000682801.1:c.10004-146_10004-145del	ENSP00000507862.1:n.10004-146_10004-145del
ENST00000682859.1:c.10004-146_10004-145del	ENSP00000508222.1:n.10004-146_10004-145del
ENST00000683791.1:c.3090-146_3090-145del
ENST00000684460.1:c.7285-146_7285-145del
ENST00000684548.1:c.10004-146_10004-145del	ENSP00000507421.1:n.10004-146_10004-145del
ENST00000684590.1:c.4451-146_4451-145del	ENSP00000507376.1:n.4451-146_4451-145del
ENST00000684656.1:c.7330-146_7330-145del
ENST00000613296.6:c.10385-146_10385-145del MANE Select	ENSP00000482968.1:n.10385-146_10385-145del
ENST00000651057.1:c.539-146_539-145del	ENSP00000498504.1:n.539-146_539-145del
ENST00000651434.1:c.1741-146_1741-145del
ENST00000652487.1:c.1482-146_1482-145del
ENST00000423048.5:c.3876-146_3876-145del	ENSP00000399833.1:n.3876-146_3876-145del
ENST00000484298.5:c.10259-146_10259-145del	ENSP00000478155.1:n.10259-146_10259-145del
ENST00000613296.4:c.10385-146_10385-145del	ENSP00000482968.1:n.10385-146_10385-145del
ENST00000614410.4:c.10385-146_10385-145del	ENSP00000479094.1:n.10385-146_10385-145del
ENST00000620466.4:n.4188-146_4188-145del
NM_015120.4:c.10388-146_10388-145del , LRG_741t1:c.10388-146_10388-145del	NP_055935.4:n.10388-146_10388-145del
NM_001378454.1:c.10385-146_10385-145del MANE Select	NP_001365383.1:n.10385-146_10385-145del