Canonical Allele Identifier: CA2660221301

Gene: CNNM4

Linked Data

• gnomAD v4: 2-96761384-TCCGGCGTGCTGGTGGTGCTCACCAAGTTCCTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761385_96761417del , CM000664.2:g.96761385_96761417del	GRCh38
NC_000002.11:g.97427122_97427154del , CM000664.1:g.97427122_97427154del	GRCh37
NC_000002.10:g.96790849_96790881del	NCBI36
NG_016608.1:g.5484_5516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.386_418del MANE Select	ENSP00000366275.2:p.Ser129_Arg140delinsTrp
ENST00000377075.2:c.386_418del	ENSP00000366275.2:p.Ser129_Arg140delinsTrp
NM_020184.3:c.386_418del	NP_064569.3:p.Ser129_Arg140delinsTrp
XM_005263914.2:c.386_418del	XP_005263971.1:p.Ser129_Arg140delinsTrp
XM_005263915.2:c.386_418del	XP_005263972.1:p.Ser129_Arg140delinsTrp
XM_011510955.1:c.386_418del	XP_011509257.1:p.Ser129_Arg140delinsTrp
XM_011510956.1:c.386_418del	XP_011509258.1:p.Ser129_Arg140delinsTrp
XM_005263914.4:c.386_418del	XP_005263971.1:p.Ser129_Arg140delinsTrp
XM_005263915.4:c.386_418del	XP_005263972.1:p.Ser129_Arg140delinsTrp
XM_011510955.3:c.386_418del	XP_011509257.1:p.Ser129_Arg140delinsTrp
XM_011510956.3:c.386_418del	XP_011509258.1:p.Ser129_Arg140delinsTrp
NM_020184.4:c.386_418del MANE Select	NP_064569.3:p.Ser129_Arg140delinsTrp