Canonical Allele Identifier: CA1260981060

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489606_73489609delinsTAAG , CM000664.2:g.73489606_73489609delinsTAAG	GRCh38
NC_000002.11:g.73716733_73716736delinsTAAG , CM000664.1:g.73716733_73716736delinsTAAG	GRCh37
NC_000002.10:g.73570241_73570244delinsTAAG	NCBI36
NG_011690.1:g.108854_108857delinsTAAG , LRG_741:g.108854_108857delinsTAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7294-28_7294-25delinsTAAG	ENSP00000507671.1:n.7294-28_7294-25delinsTAAG
ENST00000682801.1:c.7294-28_7294-25delinsTAAG	ENSP00000507862.1:n.7294-28_7294-25delinsTAAG
ENST00000682859.1:c.7294-28_7294-25delinsTAAG	ENSP00000508222.1:n.7294-28_7294-25delinsTAAG
ENST00000683791.1:c.686-28_686-25delinsTAAG
ENST00000684460.1:c.4746-28_4746-25delinsTAAG
ENST00000684548.1:c.7294-28_7294-25delinsTAAG	ENSP00000507421.1:n.7294-28_7294-25delinsTAAG
ENST00000684590.1:c.1741-28_1741-25delinsTAAG	ENSP00000507376.1:n.1741-28_1741-25delinsTAAG
ENST00000684656.1:c.4746-28_4746-25delinsTAAG
ENST00000613296.6:c.7675-28_7675-25delinsTAAG MANE Select	ENSP00000482968.1:n.7675-28_7675-25delinsTAAG
ENST00000651434.1:c.896-30169_896-30166delinsTAAG
ENST00000423048.5:c.2506-28_2506-25delinsTAAG	ENSP00000399833.1:n.2506-28_2506-25delinsTAAG
ENST00000484298.5:c.7549-28_7549-25delinsTAAG	ENSP00000478155.1:n.7549-28_7549-25delinsTAAG
ENST00000613296.4:c.7675-28_7675-25delinsTAAG	ENSP00000482968.1:n.7675-28_7675-25delinsTAAG
ENST00000614410.4:c.7675-28_7675-25delinsTAAG	ENSP00000479094.1:n.7675-28_7675-25delinsTAAG
ENST00000620466.4:n.1478-28_1478-25delinsTAAG
NM_015120.4:c.7678-28_7678-25delinsTAAG , LRG_741t1:c.7678-28_7678-25delinsTAAG	NP_055935.4:n.7678-28_7678-25delinsTAAG
NM_001378454.1:c.7675-28_7675-25delinsTAAG MANE Select	NP_001365383.1:n.7675-28_7675-25delinsTAAG