Canonical Allele Identifier: CA1261020521

Gene: ALMS1

Linked Data

• dbSNP Id: rs1674939348

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572028_73572035del , CM000664.2:g.73572028_73572035del	GRCh38
NC_000002.11:g.73799155_73799162del , CM000664.1:g.73799155_73799162del	GRCh37
NC_000002.10:g.73652663_73652670del	NCBI36
NG_011690.1:g.191276_191283del , LRG_741:g.191276_191283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-234_10004-227del	ENSP00000507671.1:n.10004-234_10004-227del
ENST00000682801.1:c.10004-234_10004-227del	ENSP00000507862.1:n.10004-234_10004-227del
ENST00000682859.1:c.10004-234_10004-227del	ENSP00000508222.1:n.10004-234_10004-227del
ENST00000683791.1:c.3090-234_3090-227del
ENST00000684460.1:c.7285-234_7285-227del
ENST00000684548.1:c.10004-234_10004-227del	ENSP00000507421.1:n.10004-234_10004-227del
ENST00000684590.1:c.4451-234_4451-227del	ENSP00000507376.1:n.4451-234_4451-227del
ENST00000684656.1:c.7330-234_7330-227del
ENST00000613296.6:c.10385-234_10385-227del MANE Select	ENSP00000482968.1:n.10385-234_10385-227del
ENST00000651057.1:c.539-234_539-227del	ENSP00000498504.1:n.539-234_539-227del
ENST00000651434.1:c.1741-234_1741-227del
ENST00000652487.1:c.1482-234_1482-227del
ENST00000423048.5:c.3876-234_3876-227del	ENSP00000399833.1:n.3876-234_3876-227del
ENST00000484298.5:c.10259-234_10259-227del	ENSP00000478155.1:n.10259-234_10259-227del
ENST00000613296.4:c.10385-234_10385-227del	ENSP00000482968.1:n.10385-234_10385-227del
ENST00000614410.4:c.10385-234_10385-227del	ENSP00000479094.1:n.10385-234_10385-227del
ENST00000620466.4:n.4188-234_4188-227del
NM_015120.4:c.10388-234_10388-227del , LRG_741t1:c.10388-234_10388-227del	NP_055935.4:n.10388-234_10388-227del
NM_001378454.1:c.10385-234_10385-227del MANE Select	NP_001365383.1:n.10385-234_10385-227del