Canonical Allele Identifier: CA2665060420
Community Standard Title: NM_007335.4(DLEC1):c.2435-76A>G
Gene: DLEC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38097431A>G , CM000665.2:g.38097431A>G GRCh38
NC_000003.11:g.38138922A>G , CM000665.1:g.38138922A>G GRCh37
NC_000003.10:g.38113926A>G NCBI36
NG_023237.1:g.63227A>G

Transcript Alleles

HGVS Amino-acid Change
NM_007335.4:c.2435-76A>G MANE Select NP_031361.2:n.2435-76A>G
ENST00000308059.11:c.2435-76A>G MANE Select ENSP00000308597.6:n.2435-76A>G
NM_001321153.1:c.2435-76A>G NP_001308082.1:n.2435-76A>G
NM_001321153.2:c.2435-76A>G NP_001308082.1:n.2435-76A>G
NM_007335.2:c.2435-76A>G NP_031361.2:n.2435-76A>G
NM_007335.3:c.2435-76A>G NP_031361.2:n.2435-76A>G
NM_007337.2:c.2435-76A>G NP_031363.2:n.2435-76A>G
NM_007337.3:c.2435-76A>G NP_031363.2:n.2435-76A>G
NM_007337.4:c.2435-76A>G NP_031363.2:n.2435-76A>G
ENST00000308059.10:c.2435-76A>G ENSP00000308597.6:n.2435-76A>G
ENST00000346219.7:c.2435-76A>G ENSP00000315914.5:n.2435-76A>G
ENST00000440294.6:n.3272-76A>G
XM_005265630.2:c.2435-76A>G XP_005265687.1:n.2435-76A>G
XM_006713437.2:c.2435-76A>G XP_006713500.1:n.2435-76A>G
XM_006713438.2:c.2435-76A>G XP_006713501.1:n.2435-76A>G
XM_006713438.3:c.2435-76A>G XP_006713501.1:n.2435-76A>G
XM_006713439.2:c.2435-76A>G XP_006713502.1:n.2435-76A>G
XM_006713439.3:c.2435-76A>G XP_006713502.1:n.2435-76A>G
XM_006713440.2:c.2435-76A>G XP_006713503.1:n.2435-76A>G
XM_006713440.3:c.2435-76A>G XP_006713503.1:n.2435-76A>G
XM_011534317.1:c.2435-76A>G XP_011532619.1:n.2435-76A>G
XM_011534317.2:c.2435-76A>G XP_011532619.1:n.2435-76A>G
XM_011534318.1:c.2261-76A>G XP_011532620.1:n.2261-76A>G
XM_011534318.2:c.2261-76A>G XP_011532620.1:n.2261-76A>G
XR_427301.2:n.3056-76A>G
XR_427301.3:n.3065-76A>G
XR_427302.2:n.3056-76A>G
XR_427302.3:n.3066-76A>G
XR_940527.1:n.3056-76A>G
XR_940527.2:n.3066-76A>G