Canonical Allele Identifier: CA1261020640

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572156_73572158delinsTTC , CM000664.2:g.73572156_73572158delinsTTC	GRCh38
NC_000002.11:g.73799283_73799285delinsTTC , CM000664.1:g.73799283_73799285delinsTTC	GRCh37
NC_000002.10:g.73652791_73652793delinsTTC	NCBI36
NG_011690.1:g.191404_191406delinsTTC , LRG_741:g.191404_191406delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-106_10004-104delinsTTC	ENSP00000507671.1:n.10004-106_10004-104delinsTTC
ENST00000682801.1:c.10004-106_10004-104delinsTTC	ENSP00000507862.1:n.10004-106_10004-104delinsTTC
ENST00000682859.1:c.10004-106_10004-104delinsTTC	ENSP00000508222.1:n.10004-106_10004-104delinsTTC
ENST00000683791.1:c.3090-106_3090-104delinsTTC
ENST00000684460.1:c.7285-106_7285-104delinsTTC
ENST00000684548.1:c.10004-106_10004-104delinsTTC	ENSP00000507421.1:n.10004-106_10004-104delinsTTC
ENST00000684590.1:c.4451-106_4451-104delinsTTC	ENSP00000507376.1:n.4451-106_4451-104delinsTTC
ENST00000684656.1:c.7330-106_7330-104delinsTTC
ENST00000613296.6:c.10385-106_10385-104delinsTTC MANE Select	ENSP00000482968.1:n.10385-106_10385-104delinsTTC
ENST00000651057.1:c.539-106_539-104delinsTTC	ENSP00000498504.1:n.539-106_539-104delinsTTC
ENST00000651434.1:c.1741-106_1741-104delinsTTC
ENST00000652487.1:c.1482-106_1482-104delinsTTC
ENST00000423048.5:c.3876-106_3876-104delinsTTC	ENSP00000399833.1:n.3876-106_3876-104delinsTTC
ENST00000484298.5:c.10259-106_10259-104delinsTTC	ENSP00000478155.1:n.10259-106_10259-104delinsTTC
ENST00000613296.4:c.10385-106_10385-104delinsTTC	ENSP00000482968.1:n.10385-106_10385-104delinsTTC
ENST00000614410.4:c.10385-106_10385-104delinsTTC	ENSP00000479094.1:n.10385-106_10385-104delinsTTC
ENST00000620466.4:n.4188-106_4188-104delinsTTC
NM_015120.4:c.10388-106_10388-104delinsTTC , LRG_741t1:c.10388-106_10388-104delinsTTC	NP_055935.4:n.10388-106_10388-104delinsTTC
NM_001378454.1:c.10385-106_10385-104delinsTTC MANE Select	NP_001365383.1:n.10385-106_10385-104delinsTTC