Canonical Allele Identifier: CA2676689257

Gene: NSD1

Linked Data

• gnomAD v4: 5-177251712-TTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177251718_177251721del , CM000667.2:g.177251718_177251721del	GRCh38
NC_000005.9:g.176678719_176678722del , CM000667.1:g.176678719_176678722del	GRCh37
NC_000005.8:g.176611325_176611328del	NCBI36
NG_009821.1:g.123640_123643del , LRG_512:g.123640_123643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.3769-12_3769-9del	ENSP00000423372.3:n.3769-12_3769-9del
ENST00000347982.9:c.3769-12_3769-9del	ENSP00000343209.5:n.3769-12_3769-9del
ENST00000354179.9:c.3769-12_3769-9del	ENSP00000346111.5:n.3769-12_3769-9del
ENST00000685206.1:n.4225-12_4225-9del
ENST00000686993.1:c.3769-12_3769-9del	ENSP00000510020.1:n.3769-12_3769-9del
ENST00000687453.1:c.4333-12_4333-9del	ENSP00000508426.1:n.4333-12_4333-9del
ENST00000688613.1:n.4039-12_4039-9del
ENST00000689345.1:c.3769-12_3769-9del	ENSP00000509711.1:n.3769-12_3769-9del
ENST00000689549.1:n.4789-12_4789-9del
ENST00000439151.7:c.4642-12_4642-9del MANE Select	ENSP00000395929.2:n.4642-12_4642-9del
ENST00000347982.8:c.3835-12_3835-9del	ENSP00000343209.4:n.3835-12_3835-9del
ENST00000354179.8:c.3835-12_3835-9del	ENSP00000346111.4:n.3835-12_3835-9del
ENST00000439151.6:c.4642-12_4642-9del	ENSP00000395929.2:n.4642-12_4642-9del
NM_022455.4:c.4642-12_4642-9del , LRG_512t1:c.4642-12_4642-9del	NP_071900.2:n.4642-12_4642-9del
NM_172349.2:c.3835-12_3835-9del	NP_758859.1:n.3835-12_3835-9del
XM_005265959.1:c.4642-12_4642-9del	XP_005266016.1:n.4642-12_4642-9del
XM_005265960.1:c.3835-12_3835-9del	XP_005266017.1:n.3835-12_3835-9del
XM_005265961.1:c.3835-12_3835-9del	XP_005266018.1:n.3835-12_3835-9del
XM_005265962.3:c.136-12_136-9del	XP_005266019.1:n.136-12_136-9del
XM_011534610.1:c.4642-12_4642-9del	XP_011532912.1:n.4642-12_4642-9del
XM_011534611.1:c.4642-12_4642-9del	XP_011532913.1:n.4642-12_4642-9del
XM_011534612.1:c.4222-12_4222-9del	XP_011532914.1:n.4222-12_4222-9del
XM_011534613.1:c.3586-12_3586-9del	XP_011532915.1:n.3586-12_3586-9del
XM_011534614.1:c.4642-12_4642-9del	XP_011532916.1:n.4642-12_4642-9del
XM_011534617.1:c.376-12_376-9del	XP_011532919.1:n.376-12_376-9del
NM_001365684.1:c.3835-12_3835-9del	NP_001352613.1:n.3835-12_3835-9del
XM_024446150.1:c.4642-12_4642-9del	XP_024301918.1:n.4642-12_4642-9del
XM_024446151.1:c.4642-12_4642-9del	XP_024301919.1:n.4642-12_4642-9del
XM_024446152.1:c.4642-12_4642-9del	XP_024301920.1:n.4642-12_4642-9del
XM_024446153.1:c.4642-12_4642-9del	XP_024301921.1:n.4642-12_4642-9del
XM_024446154.1:c.4222-12_4222-9del	XP_024301922.1:n.4222-12_4222-9del
XM_024446155.1:c.3835-12_3835-9del	XP_024301923.1:n.3835-12_3835-9del
XM_024446156.1:c.3835-12_3835-9del	XP_024301924.1:n.3835-12_3835-9del
XM_024446158.1:c.3835-12_3835-9del	XP_024301926.1:n.3835-12_3835-9del
XM_024446159.1:c.3586-12_3586-9del	XP_024301927.1:n.3586-12_3586-9del
XM_024446160.1:c.4642-12_4642-9del	XP_024301928.1:n.4642-12_4642-9del
XM_024446162.1:c.376-12_376-9del	XP_024301930.1:n.376-12_376-9del
XM_024446163.1:c.136-12_136-9del	XP_024301931.1:n.136-12_136-9del
NM_022455.5:c.4642-12_4642-9del MANE Select	NP_071900.2:n.4642-12_4642-9del
NM_172349.3:c.3835-12_3835-9del	NP_758859.1:n.3835-12_3835-9del