Canonical Allele Identifier: CA2685380848

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332288-TGAAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332292_143332296del , CM000669.2:g.143332292_143332296del	GRCh38
NC_000007.13:g.143029385_143029389del , CM000669.1:g.143029385_143029389del	GRCh37
NC_000007.12:g.142739507_142739511del	NCBI36
NG_009815.1:g.21167_21171del
NG_009815.2:g.21167_21171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-127_1167-123del	ENSP00000498052.2:n.1167-127_1167-123del
ENST00000343257.7:c.1167-127_1167-123del MANE Select	ENSP00000339867.2:n.1167-127_1167-123del
ENST00000432192.6:c.991-127_991-123del
ENST00000343257.6:c.1167-127_1167-123del	ENSP00000339867.2:n.1167-127_1167-123del
NM_000083.2:c.1167-127_1167-123del	NP_000074.2:n.1167-127_1167-123del
NR_046453.1:n.1257-127_1257-123del
XM_011515781.1:c.1167-127_1167-123del	XP_011514083.1:n.1167-127_1167-123del
XM_011515782.1:c.-3-432_-3-428del	XP_011514084.1:n.-3-432_-3-428del
XM_011515782.2:c.-3-432_-3-428del	XP_011514084.1:n.-3-432_-3-428del
XM_017011739.1:c.717-127_717-123del	XP_016867228.1:n.717-127_717-123del
XM_017011740.1:c.717-127_717-123del	XP_016867229.1:n.717-127_717-123del
NM_000083.3:c.1167-127_1167-123del MANE Select	NP_000074.3:n.1167-127_1167-123del
NR_046453.2:n.1272-127_1272-123del