Canonical Allele Identifier: CA2750469852

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601517_73601518insA , CM000664.2:g.73601517_73601518insA	GRCh38
NC_000002.11:g.73828644_73828645insA , CM000664.1:g.73828644_73828645insA	GRCh37
NC_000002.10:g.73682152_73682153insA	NCBI36
NG_011690.1:g.220765_220766insA , LRG_741:g.220765_220766insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+81_11733+82insA	ENSP00000507671.1:n.11733+81_11733+82insA
ENST00000682801.1:c.11167-668_11167-667insA	ENSP00000507862.1:n.11167-668_11167-667insA
ENST00000682859.1:c.11733+81_11733+82insA	ENSP00000508222.1:n.11733+81_11733+82insA
ENST00000683791.1:c.4819+81_4819+82insA
ENST00000684460.1:c.9014+81_9014+82insA
ENST00000684548.1:c.11733+81_11733+82insA	ENSP00000507421.1:n.11733+81_11733+82insA
ENST00000684590.1:c.6180+81_6180+82insA	ENSP00000507376.1:n.6180+81_6180+82insA
ENST00000684656.1:c.9198+81_9198+82insA
ENST00000613296.6:c.12114+81_12114+82insA MANE Select	ENSP00000482968.1:n.12114+81_12114+82insA
ENST00000651057.1:c.2268+81_2268+82insA	ENSP00000498504.1:n.2268+81_2268+82insA
ENST00000651434.1:c.3470+81_3470+82insA
ENST00000651750.1:c.1260+636_1260+637insA
ENST00000652487.1:c.3285+81_3285+82insA
ENST00000464408.3:n.289+81_289+82insA
ENST00000484298.5:c.11988+81_11988+82insA	ENSP00000478155.1:n.11988+81_11988+82insA
ENST00000613296.4:c.12114+81_12114+82insA	ENSP00000482968.1:n.12114+81_12114+82insA
ENST00000620466.4:n.5917+81_5917+82insA
NM_015120.4:c.12117+81_12117+82insA , LRG_741t1:c.12117+81_12117+82insA	NP_055935.4:n.12117+81_12117+82insA
NM_001378454.1:c.12114+81_12114+82insA MANE Select	NP_001365383.1:n.12114+81_12114+82insA