Canonical Allele Identifier: CA1748889715

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332663_143332664delinsTA , CM000669.2:g.143332663_143332664delinsTA	GRCh38
NC_000007.13:g.143029756_143029757delinsTA , CM000669.1:g.143029756_143029757delinsTA	GRCh37
NC_000007.12:g.142739878_142739879delinsTA	NCBI36
NG_009815.1:g.21538_21539delinsTA
NG_009815.2:g.21538_21539delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252-61_1252-60delinsTA	ENSP00000498052.2:n.1252-61_1252-60delinsTA
ENST00000343257.7:c.1252-61_1252-60delinsTA MANE Select	ENSP00000339867.2:n.1252-61_1252-60delinsTA
ENST00000432192.6:c.1076-61_1076-60delinsTA
ENST00000343257.6:c.1252-61_1252-60delinsTA	ENSP00000339867.2:n.1252-61_1252-60delinsTA
NM_000083.2:c.1252-61_1252-60delinsTA	NP_000074.2:n.1252-61_1252-60delinsTA
NR_046453.1:n.1341+160_1341+161delinsTA
XM_011515781.1:c.1276-61_1276-60delinsTA	XP_011514083.1:n.1276-61_1276-60delinsTA
XM_011515782.1:c.-3-61_-3-60delinsTA	XP_011514084.1:n.-3-61_-3-60delinsTA
XM_011515782.2:c.-3-61_-3-60delinsTA	XP_011514084.1:n.-3-61_-3-60delinsTA
XM_017011739.1:c.826-61_826-60delinsTA	XP_016867228.1:n.826-61_826-60delinsTA
XM_017011740.1:c.802-61_802-60delinsTA	XP_016867229.1:n.802-61_802-60delinsTA
NM_000083.3:c.1252-61_1252-60delinsTA MANE Select	NP_000074.3:n.1252-61_1252-60delinsTA
NR_046453.2:n.1356+160_1356+161delinsTA