Canonical Allele Identifier: CA2659621094

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601411-G-GGCCATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601413_73601419dup , CM000664.2:g.73601413_73601419dup	GRCh38
NC_000002.11:g.73828540_73828546dup , CM000664.1:g.73828540_73828546dup	GRCh37
NC_000002.10:g.73682048_73682054dup	NCBI36
NG_011690.1:g.220661_220667dup , LRG_741:g.220661_220667dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11710_11716dup	ENSP00000507671.1:p.Val3906AlafsTer17
ENST00000682801.1:c.11167-772_11167-766dup	ENSP00000507862.1:n.11167-772_11167-766dup
ENST00000682859.1:c.11710_11716dup	ENSP00000508222.1:p.Val3906AlafsTer17
ENST00000683791.1:c.4796_4802dup
ENST00000684460.1:c.8991_8997dup
ENST00000684548.1:c.11710_11716dup	ENSP00000507421.1:p.Val3906AlafsTer17
ENST00000684590.1:c.6157_6163dup	ENSP00000507376.1:p.Val2055AlafsTer17
ENST00000684656.1:c.9175_9181dup
ENST00000613296.6:c.12091_12097dup MANE Select	ENSP00000482968.1:p.Val4033AlafsTer17
ENST00000651057.1:c.2245_2251dup	ENSP00000498504.1:p.Val751AlafsTer17
ENST00000651434.1:c.3447_3453dup
ENST00000651750.1:c.1260+532_1260+538dup
ENST00000652487.1:c.3262_3268dup
ENST00000464408.3:n.266_272dup
ENST00000484298.5:c.11965_11971dup	ENSP00000478155.1:p.Val3991AlafsTer17
ENST00000613296.4:c.12091_12097dup	ENSP00000482968.1:p.Val4033AlafsTer17
ENST00000620466.4:n.5894_5900dup
NM_015120.4:c.12094_12100dup , LRG_741t1:c.12094_12100dup	NP_055935.4:p.Val4034AlafsTer17
NM_001378454.1:c.12091_12097dup MANE Select	NP_001365383.1:p.Val4033AlafsTer17