Canonical Allele Identifier: CA1748892819

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339386_143339405delinsAGGAAAGGCCCGGGATGCTG , CM000669.2:g.143339386_143339405delinsAGGAAAGGCCCGGGATGCTG	GRCh38
NC_000007.13:g.143036479_143036498delinsAGGAAAGGCCCGGGATGCTG , CM000669.1:g.143036479_143036498delinsAGGAAAGGCCCGGGATGCTG	GRCh37
NC_000007.12:g.142746601_142746620delinsAGGAAAGGCCCGGGATGCTG	NCBI36
NG_009815.1:g.28261_28280delinsAGGAAAGGCCCGGGATGCTG
NG_009815.2:g.28261_28280delinsAGGAAAGGCCCGGGATGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1471+64_1471+83delinsAGGAAAGGCCCGGGATGCTG	ENSP00000498052.2:n.1471+64_1471+83delinsAGGAAAGGCCCGGGATGCTG...
ENST00000343257.7:c.1471+64_1471+83delinsAGGAAAGGCCCGGGATGCTG MANE Select	ENSP00000339867.2:n.1471+64_1471+83delinsAGGAAAGGCCCGGGATGCTG...
ENST00000432192.6:c.1295+64_1295+83delinsAGGAAAGGCCCGGGATGCTG
ENST00000343257.6:c.1471+64_1471+83delinsAGGAAAGGCCCGGGATGCTG	ENSP00000339867.2:n.1471+64_1471+83delinsAGGAAAGGCCCGGGATGCTG...
NM_000083.2:c.1471+64_1471+83delinsAGGAAAGGCCCGGGATGCTG	NP_000074.2:n.1471+64_1471+83delinsAGGAAAGGCCCGGGATGCTG
NR_046453.1:n.1411+64_1411+83delinsAGGAAAGGCCCGGGATGCTG
XM_011515781.1:c.1495+64_1495+83delinsAGGAAAGGCCCGGGATGCTG	XP_011514083.1:n.1495+64_1495+83delinsAGGAAAGGCCCGGGATGCTG
XM_011515782.1:c.217+64_217+83delinsAGGAAAGGCCCGGGATGCTG	XP_011514084.1:n.217+64_217+83delinsAGGAAAGGCCCGGGATGCTG
XM_011515782.2:c.217+64_217+83delinsAGGAAAGGCCCGGGATGCTG	XP_011514084.1:n.217+64_217+83delinsAGGAAAGGCCCGGGATGCTG
XM_017011739.1:c.1045+64_1045+83delinsAGGAAAGGCCCGGGATGCTG	XP_016867228.1:n.1045+64_1045+83delinsAGGAAAGGCCCGGGATGCTG
XM_017011740.1:c.1021+64_1021+83delinsAGGAAAGGCCCGGGATGCTG	XP_016867229.1:n.1021+64_1021+83delinsAGGAAAGGCCCGGGATGCTG
NM_000083.3:c.1471+64_1471+83delinsAGGAAAGGCCCGGGATGCTG MANE Select	NP_000074.3:n.1471+64_1471+83delinsAGGAAAGGCCCGGGATGCTG
NR_046453.2:n.1426+64_1426+83delinsAGGAAAGGCCCGGGATGCTG